Rare diseases that primarily involve the neurological system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 1,908 conditions · last built 2026-08-30.
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A191
- AARS1-Related Leukoencephalopathy
- ABeta Amyloidosis, Arctic Type
- ABeta Amyloidosis, Dutch Type
- ABeta Amyloidosis, Iowa Type
- ABeta Amyloidosis, Italian Type
- ABetaA21G Amyloidosis
- ABetaL34V Amyloidosis
- Abortive Cerebellar Ataxia
- Achalasia Microcephaly Syndrome
- Acquired Ataxia
- Acquired Developmental And Epileptic Encephalopathy
- Acquired Idiopathic Torsion Dystonia
- Acquired Sleep-Related Hypermotor Epilepsy
- Acquired Torsion Dystonia
- Action Myoclonus-Renal Failure Syndrome
- Acute Bilirubin Encephalopathy
- Acute Disseminated Encephalomyelitis
- Acute Disseminated Encephalomyelitis With Anti-MOG Antibodies
- Acute Disseminated Encephalomyelitis Without Anti-MOG Antibodies
- Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
- Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
- Acute Inflammatory Demyelinating Polyradiculoneuropathy
- Acute Motor And Sensory Axonal Neuropathy
- Acute Motor Axonal Neuropathy
- Acute Necrotizing Encephalopathy Of Childhood
- Acute Pure Sensory Neuropathy
- Acute Sensory Ataxic Neuropathy
- Acyl-CoA Oxidase Deficiency
- Adenosine Kinase Deficiency
- ADNP-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
- Adrenoleukodystrophy
- Adrenomyeloneuropathy
- Adult Brain Ependymoma
- Adult Brainstem Astrocytoma
- Adult Brainstem Glioma
- Adult Brainstem Gliosarcoma
- Adult Brainstem Mixed Glioma
- Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy
- Adult-Onset Progressive Leukoencephalopathy-Early-Onset Deafness
- AFG3L2-Related Optic Atrophy And/or Spastic Ataxia Spectrum
- Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
- Agenesis Of The Corpus Callosum With Peripheral Neuropathy
- AHDC1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome
- Aicardi Goutieres Syndrome
- Alacrima, Achalasia, And Intellectual Disability Syndrome
- Alkaline Ceramidase 3 Deficiency
- Allan-Herndon-Dudley Syndrome
- Alobar Holoprosencephaly
- Alopecia - Contractures - Dwarfism - Intellectual Disability Syndrome
- Alopecia - Intellectual Disability Syndrome
- Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
- Alopecia-Intellectual Disability Syndrome 1
- Alopecia-Intellectual Disability Syndrome 2
- Alopecia-Intellectual Disability Syndrome 3
- Alopecia-Intellectual Disability Syndrome 4
- Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
- Alpha Thalassemia-Intellectual Disability Syndrome Type 1
- Alpha Thalassemia-X-Linked Intellectual Disability Syndrome
- Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
- Amelocerebrohypohidrotic Syndrome
- Amish Lethal Microcephaly
- Amyotrophic Lateral Sclerosis Type 4
- Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex
- Aniridia - Intellectual Disability Syndrome
- Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
- Anonychia-Microcephaly Syndrome
- Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
- Anterior Ischemic Optic Neuropathy
- Aphalangy-Syndactyly-Microcephaly Syndrome
- Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
- APP-Related Brain And Vascular Amyloidosis
- Aprosencephaly Cerebellar Dysgenesis
- Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
- Arachnodactyly-Intellectual Disability-Dysmorphism Syndrome
- Arteritic Anterior Ischemic Optic Neuropathy
- Arts Syndrome
- Asxl3-Related Disorder
- Asymmetric Motor Neuropathy
- Ataxia - Deafness - Intellectual Disability Syndrome
- Ataxia - Intellectual Disability - Oculomotor Apraxia - Cerebellar Cysts Syndrome
- Ataxia - Oculomotor Apraxia Type 4
- Ataxia - Telangiectasia Variant
- Ataxia And Polyneuropathy, Adult-Onset
- Ataxia Neuropathy Spectrum
- Ataxia With Fasciculations
- Ataxia With Oculomotor Apraxia Type 3
- Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
- Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
- Ataxia-Pancytopenia Syndrome
- Ataxia-Photosensitivity-Short Stature Syndrome
- Ataxia-Tapetoretinal Degeneration Syndrome
- Ataxia-Telangiectasia Syndrome
- Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
- Ataxia-Telangiectasia-Like Disorder
- Ataxia-Telangiectasia-Like Disorder 1
- Ataxia-Telangiectasia-Like Disorder 2
- Atelencephaly
- Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
- Atkin-Flaitz Syndrome
- ATPase Cation Transporting 13A2 Related Juvenile Neuronal Ceroid Lipofuscinosis
- Atypical Glycine Encephalopathy
- Atypical Juvenile Parkinsonism
- Atypical Pantothenate Kinase-Associated Neurodegeneration
- Atypical Rett Syndrome
- Auditory Neuropathy
- Auditory Neuropathy, Autosomal Dominant 2
- Auditory Neuropathy, Autosomal Dominant 3
- Auditory Neuropathy-Optic Atrophy Syndrome
- Autism Spectrum Disorder - Epilepsy - Arthrogryposis Syndrome
- Autoimmune Autonomic Ganglionopathy
- Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea
- Autoimmune Neuropathy
- Autoimmune/inflammatory Optic Neuropathy
- Autosomal Dominant Auditory Neuropathy 1
- Autosomal Dominant Cerebellar Ataxia
- Autosomal Dominant Cerebellar Ataxia Type I
- Autosomal Dominant Cerebellar Ataxia Type III
- Autosomal Dominant Cerebellar Ataxia Type IV
- Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy
- Autosomal Dominant Complex Spastic Paraplegia
- Autosomal Dominant Complex Spastic Paraplegia Type 9B
- Autosomal Dominant Dopa-Responsive Dystonia
- Autosomal Dominant Epilepsy With Auditory Features
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 3
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4
- Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 5
- Autosomal Dominant Non-Syndromic Intellectual Disability
- Autosomal Dominant Optic Atrophy And Peripheral Neuropathy
- Autosomal Dominant Parkinson Disease 1
- Autosomal Dominant Parkinson Disease 4
- Autosomal Dominant Parkinson Disease 8
- Autosomal Dominant Primary Microcephaly
- Autosomal Dominant Sensory Ataxia 1
- Autosomal Dominant Spastic Ataxia
- Autosomal Dominant Spastic Paraplegia Type 9
- Autosomal Dominant Striatal Neurodegeneration Type 1
- Autosomal Recessive Ataxia Due To PEX10 Deficiency
- Autosomal Recessive Ataxia Due To PEX16 Deficiency
- Autosomal Recessive Ataxia Due To PEX2 Deficiency
- Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
- Autosomal Recessive Ataxia, Beauce Type
- Autosomal Recessive Cerebellar Ataxia
- Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome
- Autosomal Recessive Cerebellar Ataxia - Pyramidal Signs - Nystagmus - Oculomotor Apraxia Syndrome
- Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
- Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome
- Autosomal Recessive Cerebral Atrophy
- Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
- Autosomal Recessive Complex Spastic Paraplegia Type 9B
- Autosomal Recessive Congenital Cerebellar Ataxia
- Autosomal Recessive Degenerative And Progressive Cerebellar Ataxia
- Autosomal Recessive Distal Osteolysis Syndrome
- Autosomal Recessive DOPA Responsive Dystonia
- Autosomal Recessive Early-Onset Parkinson Disease 23
- Autosomal Recessive Early-Onset Parkinson Disease 6
- Autosomal Recessive Early-Onset Parkinson Disease 7
- Autosomal Recessive Juvenile Parkinson Disease 2
- Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome
- Autosomal Recessive Metabolic Cerebellar Ataxia
- Autosomal Recessive Non-Syndromic Intellectual Disability
- Autosomal Recessive Parkinson Disease 14
- Autosomal Recessive Primary Microcephaly
- Autosomal Recessive Proximal Renal Tubular Acidosis
- Autosomal Recessive Spastic Ataxia
- Autosomal Recessive Spastic Paraplegia Type 59
- Autosomal Recessive Spastic Paraplegia Type 60
- Autosomal Recessive Spastic Paraplegia Type 66
- Autosomal Recessive Spastic Paraplegia Type 67
- Autosomal Recessive Spastic Paraplegia Type 68
- Autosomal Recessive Spastic Paraplegia Type 69
- Autosomal Recessive Spastic Paraplegia Type 70
- Autosomal Recessive Spastic Paraplegia Type 71
- Autosomal Recessive Spastic Paraplegia Type 76
- Autosomal Recessive Spastic Paraplegia Type 78
- Autosomal Recessive Spinocerebellar Ataxia 10
- Autosomal Recessive Spinocerebellar Ataxia 11
- Autosomal Recessive Spinocerebellar Ataxia 12
- Autosomal Recessive Spinocerebellar Ataxia 13
- Autosomal Recessive Spinocerebellar Ataxia 14
- Autosomal Recessive Spinocerebellar Ataxia 15
- Autosomal Recessive Spinocerebellar Ataxia 16
- Autosomal Recessive Spinocerebellar Ataxia 17
- Autosomal Recessive Spinocerebellar Ataxia 18
- Autosomal Recessive Spinocerebellar Ataxia 2
- Autosomal Recessive Spinocerebellar Ataxia 20
- Autosomal Recessive Spinocerebellar Ataxia 7
- Autosomal Recessive Syndromic Cerebellar Ataxia
- Axonal Polyneuropathy Associated With IgG/IgM/IgA Monoclonal Gammopathy
B53
- Balint Syndrome
- Band Heterotopia Of Brain
- Barrett Adenocarcinoma
- Basal Encephalocele
- Basilicata-Akhtar Syndrome
- Beck-Fahrner Syndrome
- Benign Adult Familial Myoclonic Epilepsy
- Benign Familial Infantile Epilepsy
- Benign Infantile Focal Epilepsy With Midline Spikes And Waves During Sleep
- Benign Neonatal Seizures
- Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
- Benign Partial Epilepsy Of Infancy With Complex Partial Seizures
- Benign Partial Epilepsy With Secondarily Generalized Seizures In Infancy
- Bickerstaff Brainstem Encephalitis
- Bilateral Striopallidodentate Calcinosis
- Bilirubin Encephalopathy
- Bird-Headed Dwarfism With Progressive Ataxia, Insulin-Resistant Diabetes, Goiter, And Primary Gonadal Insufficiency
- Birk-Barel Syndrome
- Blepharophimosis - Intellectual Disability Syndrome
- Blepharophimosis - Intellectual Disability Syndrome, MKB Type
- Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
- Blepharophimosis - Intellectual Disability Syndrome, SBBYS Type
- Blepharophimosis - Intellectual Disability Syndrome, Verloes Type
- Blepharophimosis-Intellectual Disability Syndrome/genitopatellar Overlap Syndrome
- Blepharospasm-Oromandibular Dystonia Syndrome
- Bonnemann-Meinecke-Reich Syndrome
- Borjeson-Forssman-Lehmann Syndrome
- Brachial Plexus Neuropathy
- Brachial Plexus Neuropathy From Injury
- Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
- Brachydactyly-Nystagmus-Cerebellar Ataxia Syndrome
- Brain Astrocytoma
- Brain Dopamine-Serotonin Vesicular Transport Disease
- Brain Germinoma
- Brain Glioblastoma
- Brain Glioma
- Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
- Brain Malformations With Or Without Urinary Tract Defects
- Brain Oligodendroglioma
- Brain Sarcoma
- Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
- Brain Small Vessel Disease 3
- Brain Small Vessel Disease 4
- Brain Small Vessel Disease 5 With Osteoporosis
- Brain Stem Astrocytic Neoplasm
- Brain Stem Ependymoma
- Brain Stem Glioblastoma
- Brain Stem Hemangioblastoma
- Brain Stem Medulloblastoma
- Brain-Lung-Thyroid Syndrome
- Brainstem Cancer
- Brainstem Glioma
- Brainstem Intraparenchymal Clear Cell Meningioma
C142
- C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy
- CAMOS Syndrome
- CANOMAD Syndrome
- Carbon Monoxide-Induced Parkinsonism
- Cardiocranial Syndrome, Pfeiffer Type
- Cataract-Ataxia-Deafness Syndrome
- Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
- Cataract-Hypertrichosis-Intellectual Disability Syndrome
- Cataract-Nephropathy-Encephalopathy Syndrome
- Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy
- Cayman Type Cerebellar Ataxia
- CCNK-Related Neurodevelopmental Disorder-Severe Intellectual Disability-Facial Dysmorphism Syndrome
- CEBALID Syndrome
- CEDNIK Syndrome
- Celiac Disease-Epilepsy-Cerebral Calcification Syndrome
- Cerebellar Astrocytoma
- Cerebellar Ataxia
- Cerebellar Ataxia And Hypergonadotropic Hypogonadism
- Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
- Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
- Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 2
- Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 3
- Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 4
- Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
- Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
- Cerebellar Ataxia-Hypogonadism Syndrome
- Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation;
- Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
- Cerebellar Hemangioblastoma
- Cerebellar Hypoplasia-Intellectual Disability-Congenital Microcephaly-Dystonia-Anemia-Growth Retardation Syndrome
- Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
- Cerebellar Liponeurocytoma
- Cerebellar Pilocytic Astrocytoma
- Cerebellar Vermis Medulloblastoma
- Cerebellar-Facial-Dental Syndrome
- Cerebral Adrenoleukodystrophy
- Cerebral Amyloid Angiopathy, APP-Related
- Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy
- Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
- Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy 1
- Cerebral Arteriovenous Malformation
- Cerebral Arteritis
- Cerebral Astrocytoma
- Cerebral Cavernous Malformation 1
- Cerebral Cavernous Malformation 2
- Cerebral Cavernous Malformation 3
- Cerebral Cavernous Malformation 4
- Cerebral Cavernous Malformations 5
- Cerebral Convexity Meningioma
- Cerebral Creatine Deficiency Syndrome
- Cerebral Falx Meningioma
- Cerebral Folate Transport Deficiency
- Cerebral Gigantism-Jaw Cysts Syndrome
- Cerebral Hemisphere Cancer
- Cerebral Lipidosis With Dementia
- Cerebral Lymphoma
- Cerebral Malaria
- Cerebral Malformation, Seizures, Hypertrichosis, And Overlapping Fingers
- Cerebral Meningioma
- Cerebral Neuroblastoma
- Cerebral Palsy, Ataxic, Autosomal Recessive
- Cerebral Palsy, Spastic Quadriplegic, 2
- Cerebral Palsy, Spastic Quadriplegic, 3
- Cerebral Primitive Neuroectodermal Tumor
- Cerebral Sarcoidosis
- Cerebral Sarcoma
- Cerebral Sclerosis Similar To Pelizaeus-Merzbacher Disease
- Cerebral Venous Sinus Thrombosis
- Cerebral Ventricle Cancer
- Cernunnos-XLF Deficiency
- Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
- Charlevoix-Saguenay Spastic Ataxia
- Childhood Absence Epilepsy
- Childhood Brain Germinoma
- Childhood Brain Meningioma
- Childhood Brain Stem Glioma
- Childhood Brain Stem Neoplasm
- Childhood Brainstem Astrocytoma
- Childhood Cerebellar Astrocytic Neoplasm
- Childhood Cerebral Astrocytoma
- Childhood Encephalopathy Due To Thiamine Pyrophosphokinase Deficiency
- Childhood Germ Cell Brain Tumor
- Childhood Occipital Visual Epilepsy
- Childhood Onset GLUT1 Deficiency Syndrome 2
- Childhood-Onset Epilepsy Syndrome
- Childhood-Onset Epilepsy Syndrome With Developmental And/or Epileptic Encephalopathy
- Childhood-Onset Genetic Generalized Epilepsy Syndrome
- Childhood-Onset Idiopathic Generalized Epilepsy Syndrome
- Childhood-Onset Self-Limited Focal Epilepsy Syndrome
- CHIME Syndrome
- Chromosome 2q37 Deletion Syndrome
- Chronic Bilirubin Encephalopathy
- Chronic Inflammatory Demyelinating Polyradiculoneuropathy
- Chronic Metabolic Polyneuropathy
- Chronic Relapsing Inflammatory Optic Neuropathy
- Chronic Toxic Polyneuropathy
- CK Syndrome
- Classic Pantothenate Kinase-Associated Neurodegeneration
- Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome
- Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To MEIS2 Mutation
- COACH Syndrome
- Colobomatous Microphthalmia - Obesity - Hypogenitalism - Intellectual Disability Syndrome
- Combined Cervical Dystonia
- Combined Dystonia
- Complex Cortical Dysplasia With Other Brain Malformations 1
- Complex Cortical Dysplasia With Other Brain Malformations 5
- Complex Cortical Dysplasia With Other Brain Malformations 7
- Complex Hereditary Spastic Paraplegia
- Congenital Axonal Neuropathy With Encephalopathy
- Congenital Bile Acid Synthesis Defect 4
- Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency
- Congenital Cataract-Microcephaly-Nevus Flammeus Simplex-Severe Intellectual Disability Syndrome
- Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
- Congenital Cerebellar Ataxia Due To RNU12 Mutation
- Congenital Cerebellar Hypoplasia
- Congenital Hypomyelinating Neuropathy
- Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
- Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome
- Congenital Insensitivity To Pain With Severe Intellectual Disability
- Congenital Insensitivity To Pain-Hypohidrosis Syndrome
- Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
- Congenital Microcephaly - Severe Encephalopathy - Progressive Cerebral Atrophy Syndrome
- Congenital Muscular Hypertrophy-Cerebral Syndrome
- Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
- Congenital Pontocerebellar Hypoplasia Type 1
- Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
- Cooper-Jabs Syndrome
- COQ7-Related Distal Hereditary Motor Neuropathy
- Corneal-Cerebellar Syndrome
- Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
- Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
- Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
- Cortical Dysplasia
- Cortical Dysplasia-Focal Epilepsy Syndrome
- Craniodigital Syndrome And Intellectual Disability Syndrome
- Craniofacial Dystonia
- Craniosynostosis-Intellectual Disability Syndrome Of 51N And Gettig
- Critical Illness Polyneuropathy
- Cryptogenic Late-Onset Epileptic Spasms
- Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
- Cyanide-Induced Parkinsonism
- Cystic Leukoencephalopathy Without Megalencephaly
D167
- DCTN1-Related Neurodegeneration
- De Barsy Syndrome
- Deafness Dystonia Syndrome
- Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
- Deafness-Intellectual Disability, Martin-Probst Type Syndrome
- Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
- Dementia Pugilistica
- Demyelinating Hereditary Motor And Sensory Neuropathy
- Demyelinating Peripheral Neuropathy
- DEND Syndrome
- Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
- Dermatoleukodystrophy
- Developmental And Epileptic Encephalopathy
- Developmental And Epileptic Encephalopathy 100
- Developmental And Epileptic Encephalopathy 101
- Developmental And Epileptic Encephalopathy 102
- Developmental And Epileptic Encephalopathy 103
- Developmental And Epileptic Encephalopathy 104
- Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
- Developmental And Epileptic Encephalopathy 106
- Developmental And Epileptic Encephalopathy 108
- Developmental And Epileptic Encephalopathy 109
- Developmental And Epileptic Encephalopathy 110
- Developmental And Epileptic Encephalopathy 111
- Developmental And Epileptic Encephalopathy 112
- Developmental And Epileptic Encephalopathy 113
- Developmental And Epileptic Encephalopathy 114
- Developmental And Epileptic Encephalopathy 115
- Developmental And Epileptic Encephalopathy 116
- Developmental And Epileptic Encephalopathy 118
- Developmental And Epileptic Encephalopathy 119
- Developmental And Epileptic Encephalopathy 6B
- Developmental And Epileptic Encephalopathy 89
- Developmental And Epileptic Encephalopathy 91
- Developmental And Epileptic Encephalopathy 92
- Developmental And Epileptic Encephalopathy 93
- Developmental And Epileptic Encephalopathy 94
- Developmental And Epileptic Encephalopathy 96
- Developmental And Epileptic Encephalopathy 97
- Developmental And Epileptic Encephalopathy 98
- Developmental And Epileptic Encephalopathy 99
- Developmental And Epileptic Encephalopathy, 1
- Developmental And Epileptic Encephalopathy, 11
- Developmental And Epileptic Encephalopathy, 12
- Developmental And Epileptic Encephalopathy, 13
- Developmental And Epileptic Encephalopathy, 14
- Developmental And Epileptic Encephalopathy, 15
- Developmental And Epileptic Encephalopathy, 16
- Developmental And Epileptic Encephalopathy, 17
- Developmental And Epileptic Encephalopathy, 18
- Developmental And Epileptic Encephalopathy, 19
- Developmental And Epileptic Encephalopathy, 2
- Developmental And Epileptic Encephalopathy, 21
- Developmental And Epileptic Encephalopathy, 23
- Developmental And Epileptic Encephalopathy, 24
- Developmental And Epileptic Encephalopathy, 25
- Developmental And Epileptic Encephalopathy, 26
- Developmental And Epileptic Encephalopathy, 27
- Developmental And Epileptic Encephalopathy, 28
- Developmental And Epileptic Encephalopathy, 29
- Developmental And Epileptic Encephalopathy, 3
- Developmental And Epileptic Encephalopathy, 30
- Developmental And Epileptic Encephalopathy, 31A
- Developmental And Epileptic Encephalopathy, 31B
- Developmental And Epileptic Encephalopathy, 32
- Developmental And Epileptic Encephalopathy, 33
- Developmental And Epileptic Encephalopathy, 34
- Developmental And Epileptic Encephalopathy, 35
- Developmental And Epileptic Encephalopathy, 36
- Developmental And Epileptic Encephalopathy, 37
- Developmental And Epileptic Encephalopathy, 38
- Developmental And Epileptic Encephalopathy, 39
- Developmental And Epileptic Encephalopathy, 4
- Developmental And Epileptic Encephalopathy, 40
- Developmental And Epileptic Encephalopathy, 41
- Developmental And Epileptic Encephalopathy, 42
- Developmental And Epileptic Encephalopathy, 43
- Developmental And Epileptic Encephalopathy, 44
- Developmental And Epileptic Encephalopathy, 45
- Developmental And Epileptic Encephalopathy, 46
- Developmental And Epileptic Encephalopathy, 47
- Developmental And Epileptic Encephalopathy, 48
- Developmental And Epileptic Encephalopathy, 49
- Developmental And Epileptic Encephalopathy, 5
- Developmental And Epileptic Encephalopathy, 50
- Developmental And Epileptic Encephalopathy, 51
- Developmental And Epileptic Encephalopathy, 52
- Developmental And Epileptic Encephalopathy, 53
- Developmental And Epileptic Encephalopathy, 54
- Developmental And Epileptic Encephalopathy, 55
- Developmental And Epileptic Encephalopathy, 56
- Developmental And Epileptic Encephalopathy, 57
- Developmental And Epileptic Encephalopathy, 58
- Developmental And Epileptic Encephalopathy, 59
- Developmental And Epileptic Encephalopathy, 60
- Developmental And Epileptic Encephalopathy, 61
- Developmental And Epileptic Encephalopathy, 62
- Developmental And Epileptic Encephalopathy, 63
- Developmental And Epileptic Encephalopathy, 64
- Developmental And Epileptic Encephalopathy, 65
- Developmental And Epileptic Encephalopathy, 66
- Developmental And Epileptic Encephalopathy, 67
- Developmental And Epileptic Encephalopathy, 68
- Developmental And Epileptic Encephalopathy, 69
- Developmental And Epileptic Encephalopathy, 6A
- Developmental And Epileptic Encephalopathy, 7
- Developmental And Epileptic Encephalopathy, 70
- Developmental And Epileptic Encephalopathy, 71
- Developmental And Epileptic Encephalopathy, 72
- Developmental And Epileptic Encephalopathy, 73
- Developmental And Epileptic Encephalopathy, 74
- Developmental And Epileptic Encephalopathy, 75
- Developmental And Epileptic Encephalopathy, 76
- Developmental And Epileptic Encephalopathy, 77
- Developmental And Epileptic Encephalopathy, 78
- Developmental And Epileptic Encephalopathy, 79
- Developmental And Epileptic Encephalopathy, 8
- Developmental And Epileptic Encephalopathy, 80
- Developmental And Epileptic Encephalopathy, 81
- Developmental And Epileptic Encephalopathy, 82
- Developmental And Epileptic Encephalopathy, 83
- Developmental And Epileptic Encephalopathy, 84
- Developmental And Epileptic Encephalopathy, 85, With Or Without Midline Brain Defects
- Developmental And Epileptic Encephalopathy, 86
- Developmental And Epileptic Encephalopathy, 87
- Developmental And Epileptic Encephalopathy, 88
- Developmental And Epileptic Encephalopathy, 9
- Developmental And Epileptic Encephalopathy, 90
- Developmental And Epileptic Encephalopathy-107
- Developmental And/or Epileptic Encephalopathy With Spike-Wave Activation In Sleep
- Developmental Delay, Epilepsy, And Neonatal Diabetes 1
- Developmental Delay, Epilepsy, And Neonatal Diabetes 2
- Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome
- Developmental Delay-Language Impairment-Dopa Responsive Dystonia-Parkinsonism Syndrome Due To A NR4A2 Point Mutation
- Developmental Malformations-Deafness-Dystonia Syndrome
- Diffuse Cerebral And Cerebellar Atrophy - Intractable Seizures - Progressive Microcephaly Syndrome
- Disorder Of Sex Development-Intellectual Disability Syndrome
- DNM1-Encephalopathy And Neurodevelopmental Disorder
- DONSON-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum
- DOORS Syndrome
- Dopa-Responsive Dystonia
- Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
- DYRK1A-Related Intellectual Disability Syndrome
- DYRK1A-Related Intellectual Disability Syndrome Due To 21q22.13q22.2 Microdeletion
- Dysequilibrium Syndrome
- Dystonia 12
- Dystonia 16
- Dystonia 21
- Dystonia 22, Adult-Onset
- Dystonia 22, Juvenile-Onset
- Dystonia 23
- Dystonia 24
- Dystonia 25
- Dystonia 27
- Dystonia 28, Childhood-Onset
- Dystonia 30
- Dystonia 31
- Dystonia 32
- Dystonia 33
- Dystonia 34, Myoclonic
- Dystonia 35, Childhood-Onset
- Dystonia 37, Early-Onset, With Striatal Lesions
- Dystonia 5
- Dystonia 9
- Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
- Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive
- Dystonia-Aphonia Syndrome
E74
- Early Onset Cerebellar Ataxia With Retained Tendon Reflexes
- Early-Childhood-Onset Neurodegeneration With Retinitis Pigmentosa, Sensorineural Hearing Loss, And Demyelinating Peripheral Neuropathy
- Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia
- Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To GRIN2A Mutation
- Early-Onset Generalized Dystonia
- Early-Onset Generalized Limb-Onset Dystonia
- Early-Onset Parkinson Disease 20
- Early-Onset Parkinsonism-Intellectual Disability Syndrome
- Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
- Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
- Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome
- EAST Syndrome
- Eastern Equine Encephalitis
- Eating Seizures
- Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
- EGF-Related Primary Hypomagnesemia With Intellectual Disability
- Encephaloclastic Disorder
- Encephalocraniocutaneous Lipomatosis
- Encephalopathy Due To Beta-Mercaptolactate-Cysteine Disulfiduria
- Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
- Encephalopathy Due To GLUT1 Deficiency
- Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
- Encephalopathy Due To Sulfite Oxidase Deficiency
- Encephalopathy, Lethal, Due To Defective Mitochondrial Peroxisomal Fission 1
- Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
- Encephalopathy, Porphyria-Related
- Encephalopathy, Progressive, Early-Onset, With Brain Edema And/or Leukoencephalopathy
- Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
- Encephalopathy, Recurrent, Of Childhood
- ENDOVE Syndrome, Limb-Brain Type
- Ependymal Tumor Of Brain
- Epilepsy Of Infancy With Migrating Focal Seizures
- Epilepsy Syndrome
- Epilepsy With Auditory Features
- Epilepsy With Eyelid Myoclonia
- Epilepsy With Generalized Tonic-Clonic Seizures
- Epilepsy With Myoclonic Absences
- Epilepsy With Myoclonic Atonic Seizures
- Epilepsy, Early-Onset, Vitamin B6-Dependent
- Epilepsy, Familial Adult Myoclonic
- Epilepsy, Familial Adult Myoclonic, 1
- Epilepsy, Familial Adult Myoclonic, 2
- Epilepsy, Familial Adult Myoclonic, 3
- Epilepsy, Familial Adult Myoclonic, 4
- Epilepsy, Familial Adult Myoclonic, 5
- Epilepsy, Familial Adult Myoclonic, 6
- Epilepsy, Familial Adult Myoclonic, 7
- Epilepsy, Familial Focal, With Variable Foci 1
- Epilepsy, Familial Focal, With Variable Foci 2
- Epilepsy, Familial Focal, With Variable Foci 3
- Epilepsy, Familial Focal, With Variable Foci 4
- Epilepsy, Familial Temporal Lobe, 1
- Epilepsy, Hot Water, 1
- Epilepsy, Hot Water, 2
- Epilepsy, Progressive Myoclonic, 11
- Epilepsy, Progressive Myoclonic, 12
- Epilepsy, Progressive Myoclonic, 1B
- Epilepsy, X-Linked 1, With Variable Learning Disabilities And Behavior Disorders
- Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
- Epilepsy, X-Linked, With Or Without Impaired Intellectual Development And Dysmorphic Features
- Epilepsy-Microcephaly-Skeletal Dysplasia Syndrome
- Epilepsy-Telangiectasia Syndrome
- Episodic Ataxia Type 1
- Episodic Ataxia Type 2
- Episodic Ataxia Type 3
- Episodic Ataxia Type 4
- Episodic Ataxia Type 5
- Episodic Ataxia Type 6
- Episodic Ataxia Type 7
- Episodic Ataxia Type 8
- Episodic Ataxia, Type 9
- Episodic Memory Defect Leukoencephalopathy
- Ethylmalonic Encephalopathy
- Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
F46
- Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, And Gingival Overgrowth Syndrome
- Fallot Complex-Intellectual Disability-Growth Delay Syndrome
- Familial Acute Necrotizing Encephalopathy
- Familial Amyloid Neuropathy
- Familial Amyloid Polyneuropathy, Iowa Type
- Familial Dysautonomia
- Familial Encephalopathy With Neuroserpin Inclusion Bodies
- Familial Focal Epilepsy With Variable Foci
- Familial Idiopathic Torsion Dystonia
- Familial Infantile Myoclonic Epilepsy
- Familial Isolated Deficiency Of Vitamin E
- Familial Mesial Temporal Lobe Epilepsy
- Familial Partial Epilepsy
- Familial Scaphocephaly Syndrome, McGillivray Type
- Familial Sleep-Related Hypermotor Epilepsy
- Familial Temporal Lobe Epilepsy 2
- Familial Temporal Lobe Epilepsy 3
- Familial Temporal Lobe Epilepsy 4
- Familial Temporal Lobe Epilepsy 5
- Familial Temporal Lobe Epilepsy 6
- Familial Temporal Lobe Epilepsy 7
- Familial Temporal Lobe Epilepsy 8
- Fatal Post-Viral Neurodegenerative Disorder
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- Febrile Infection-Related Epilepsy Syndrome
- Feingold Syndrome
- Feingold Syndrome Type 1
- Feingold Syndrome Type 2
- Femoral Neuropathy
- Fetal Akinesia-Cerebral And Retinal Hemorrhage Syndrome
- Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
- Filippi Syndrome
- Fine-Lubinsky Syndrome
- Finnish Type Amyloidosis
- FLVCR1-Related Retinopathy With Or Without Ataxia
- Focal Dystonia
- Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation
- Focal, Segmental Or Multifocal Dystonia
- Fowler Syndrome
- Fragile X-Associated Tremor/ataxia Syndrome
- FRAXE
- Friedreich Ataxia
- Friedreich Ataxia 1
- Friedreich Ataxia 2
- Friedreich Ataxia With Retained Reflexes
- Frontal Encephalocele
G40
- Galactosylceramide Beta-Galactosidase Deficiency
- Galloway-Mowat Syndrome
- Gaucher Disease Type I
- Gaucher Disease Type II
- Gaucher Disease Type III
- Gemignani Syndrome
- Generalized Dystonia
- Generalized Epilepsy With Febrile Seizures Plus
- Generalized Epilepsy With Febrile Seizures Plus, Type 1
- Generalized Epilepsy With Febrile Seizures Plus, Type 10
- Generalized Epilepsy With Febrile Seizures Plus, Type 12
- Generalized Epilepsy With Febrile Seizures Plus, Type 2
- Generalized Epilepsy With Febrile Seizures Plus, Type 4
- Generalized Epilepsy With Febrile Seizures Plus, Type 6
- Generalized Epilepsy With Febrile Seizures Plus, Type 7
- Generalized Epilepsy With Febrile Seizures Plus, Type 8
- Generalized Epilepsy With Febrile Seizures Plus, Type 9
- Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
- Genetic Developmental And Epileptic Encephalopathy
- Genetic Epilepsy With Febrile Seizures Plus Spectrum
- Genitopatellar Syndrome
- Genitourinary And/or Brain Malformation Syndrome
- Gerstmann-Straussler-Scheinker Syndrome
- Giant Axonal Neuropathy
- Giant Axonal Neuropathy 1
- Giant Axonal Neuropathy 2
- Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
- Glossopharyngeal Motor Neuropathy
- Glycine Encephalopathy
- Glycine Encephalopathy 1
- Glycine Encephalopathy 2
- GM3 Synthase Deficiency
- GMS Syndrome
- Goldberg-Shprintzen Syndrome
- Gomez Lopez Hernandez Syndrome
- GRID2-Related Autosomal Dominant Spinocerebellar Ataxia
- GRIN2A-Related Developmental And/or Epileptic Encephalopathy With Spike-Wave Activation In Sleep
- GRIN2A-Related Rolandic Epilepsy-Speech Dyspraxia Syndrome
- GRIN2A-Related Self-Limited Epilepsy With Centrotemporal Spikes
- Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
H166
- Hartsfield-Bixler-Demyer Syndrome
- Hemidystonia
- Hemidystonia-Hemiatrophy Syndrome
- Hemiparkinsonism-Hemiatrophy Syndrome
- Hemiplegic Migraine-Developmental And Epileptic Encephalopathy Spectrum
- Hennekam Lymphangiectasia-Lymphedema Syndrome
- Hepatic Encephalopathy
- Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
- Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1
- Hereditary Ataxia
- Hereditary Cavernous Hemangioma Of Brain
- Hereditary Cerebellar Ataxia
- Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
- Hereditary Cerebral Hemorrhage With Amyloidosis
- Hereditary Cerebral Malformation
- Hereditary Episodic Ataxia
- Hereditary Insensitivity To Pain With Anhidrosis
- Hereditary Liability To Pressure Palsies
- Hereditary Motor And Sensory Neuropathy
- Hereditary Motor And Sensory Neuropathy, Okinawa Type
- Hereditary Optic Neuropathy
- Hereditary Peripheral Neuropathy
- Hereditary Persistence Of Fetal Hemoglobin-Intellectual Disability Syndrome
- Hereditary Sensorimotor Neuropathy With Hyperelastic Skin
- Hereditary Sensory And Autonomic Neuropathy
- Hereditary Sensory And Autonomic Neuropathy Type 1
- Hereditary Sensory And Autonomic Neuropathy Type 1B
- Hereditary Sensory And Autonomic Neuropathy Type 2
- Hereditary Sensory And Autonomic Neuropathy Type 6
- Hereditary Sensory And Autonomic Neuropathy Type 7
- Hereditary Sensory And Autonomic Neuropathy With Deafness And Global Delay
- Hereditary Sensory And Autonomic Neuropathy With Spastic Paraplegia
- Hereditary Sensory Neuropathy X-Linked
- Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
- Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia 10
- Hereditary Spastic Paraplegia 11
- Hereditary Spastic Paraplegia 12
- Hereditary Spastic Paraplegia 13
- Hereditary Spastic Paraplegia 14
- Hereditary Spastic Paraplegia 15
- Hereditary Spastic Paraplegia 16
- Hereditary Spastic Paraplegia 17
- Hereditary Spastic Paraplegia 18
- Hereditary Spastic Paraplegia 19
- Hereditary Spastic Paraplegia 2
- Hereditary Spastic Paraplegia 23
- Hereditary Spastic Paraplegia 24
- Hereditary Spastic Paraplegia 25
- Hereditary Spastic Paraplegia 26
- Hereditary Spastic Paraplegia 27
- Hereditary Spastic Paraplegia 28
- Hereditary Spastic Paraplegia 29
- Hereditary Spastic Paraplegia 30
- Hereditary Spastic Paraplegia 31
- Hereditary Spastic Paraplegia 32
- Hereditary Spastic Paraplegia 33
- Hereditary Spastic Paraplegia 34
- Hereditary Spastic Paraplegia 35
- Hereditary Spastic Paraplegia 36
- Hereditary Spastic Paraplegia 37
- Hereditary Spastic Paraplegia 38
- Hereditary Spastic Paraplegia 39
- Hereditary Spastic Paraplegia 3A
- Hereditary Spastic Paraplegia 4
- Hereditary Spastic Paraplegia 41
- Hereditary Spastic Paraplegia 42
- Hereditary Spastic Paraplegia 43
- Hereditary Spastic Paraplegia 44
- Hereditary Spastic Paraplegia 45
- Hereditary Spastic Paraplegia 46
- Hereditary Spastic Paraplegia 47
- Hereditary Spastic Paraplegia 48
- Hereditary Spastic Paraplegia 49
- Hereditary Spastic Paraplegia 50
- Hereditary Spastic Paraplegia 51
- Hereditary Spastic Paraplegia 52
- Hereditary Spastic Paraplegia 53
- Hereditary Spastic Paraplegia 54
- Hereditary Spastic Paraplegia 55
- Hereditary Spastic Paraplegia 56
- Hereditary Spastic Paraplegia 57
- Hereditary Spastic Paraplegia 5A
- Hereditary Spastic Paraplegia 6
- Hereditary Spastic Paraplegia 61
- Hereditary Spastic Paraplegia 62
- Hereditary Spastic Paraplegia 63
- Hereditary Spastic Paraplegia 64
- Hereditary Spastic Paraplegia 7
- Hereditary Spastic Paraplegia 72
- Hereditary Spastic Paraplegia 73
- Hereditary Spastic Paraplegia 74
- Hereditary Spastic Paraplegia 75
- Hereditary Spastic Paraplegia 77
- Hereditary Spastic Paraplegia 8
- Hereditary Thermosensitive Neuropathy
- Hernández-Aguirre Negrete Syndrome
- Heyn-Sproul-Jackson Syndrome
- Hidrotic Ectodermal Dysplasia, Halal Type
- Hirsutism-Skeletal Dysplasia-Intellectual Disability Syndrome
- Holoprosencephaly 1
- Holoprosencephaly 10
- Holoprosencephaly 11
- Holoprosencephaly 12 With Or Without Pancreatic Agenesis
- Holoprosencephaly 13, X-Linked
- Holoprosencephaly 14
- Holoprosencephaly 2
- Holoprosencephaly 3
- Holoprosencephaly 4
- Holoprosencephaly 5
- Holoprosencephaly 6
- Holoprosencephaly 7
- Holoprosencephaly 8
- Holoprosencephaly 9
- Holoprosencephaly Sequence
- Holoprosencephaly-Caudal Dysgenesis Syndrome
- Holoprosencephaly-Craniosynostosis Syndrome
- Holoprosencephaly-Hypokinesia-Congenital Contractures Syndrome
- Holoprosencephaly-Postaxial Polydactyly Syndrome
- Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
- Hot Water Reflex Epilepsy
- Hoyeraal-Hreidarsson Syndrome
- HSD10 Disease, Atypical Type
- HTRA1-Related Autosomal Dominant Cerebral Small Vessel Disease
- Human HOXA1 Syndromes
- Human Prion Disease
- Huppke-Brendel Syndrome
- Hydrocephalus, Congenital, 3, With Brain Anomalies
- Hydrocephaly-Cerebellar Agenesis Syndrome
- Hyperammonemic Encephalopathy Due To Carbonic Anhydrase VA Deficiency
- Hypermanganesemia With Dystonia
- Hypermanganesemia With Dystonia 2
- Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis
- Hyperphosphatasia With Intellectual Disability Syndrome 1
- Hyperphosphatasia With Intellectual Disability Syndrome 2
- Hyperphosphatasia With Intellectual Disability Syndrome 3
- Hyperphosphatasia With Intellectual Disability Syndrome 4
- Hyperphosphatasia With Intellectual Disability Syndrome 5
- Hyperphosphatasia With Intellectual Disability Syndrome 6
- Hyperphosphatasia-Intellectual Disability Syndrome
- Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
- Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
- Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
- Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
- Hypomagnesemia, Seizures, And Intellectual Disability
- Hypomagnesemia, Seizures, And Intellectual Disability 1
- Hypomagnesemia, Seizures, And Intellectual Disability 2
- Hypomyelinating Leukodystrophy 10
- Hypomyelinating Leukodystrophy 11
- Hypomyelinating Leukodystrophy 12
- Hypomyelinating Leukodystrophy 13
- Hypomyelinating Leukodystrophy 2
- Hypomyelinating Leukodystrophy 3
- Hypomyelinating Leukodystrophy 4
- Hypomyelinating Leukodystrophy 6
- Hypomyelinating Leukodystrophy 8 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism
- Hypomyelinating Leukodystrophy 9
- Hypomyelination Neuropathy-Arthrogryposis Syndrome
- Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity
- Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome
- Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
- Hypotonia, Ataxia, And Delayed Development Syndrome
- Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses
- Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
- Hypotonia-Failure To Thrive-Microcephaly Syndrome
- Hypotrichosis-Intellectual Disability, Lopes Type
I208
- Ichthyosis, Cerebellar Degeneration And Hepatosplenomegaly
- Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
- Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
- Idiopathic Progressive Polyneuropathy
- Idiopathic Small Fibers Neuropathy
- Idiopathic Torsion Dystonia
- Immune-Mediated Cerebellar Ataxia
- Infant Epilepsy With Migrant Focal Crisis
- Infantile Cerebellar-Retinal Degeneration
- Infantile Cerebral And Cerebellar Atrophy With Postnatal Progressive Microcephaly
- Infantile Choroidocerebral Calcification Syndrome
- Infantile Epilepsy Syndrome
- Infantile Epileptic Dyskinetic Encephalopathy
- Infantile Glycine Encephalopathy
- Infantile Neuroaxonal Dystrophy
- Infantile Onset Spinocerebellar Ataxia
- Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
- Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
- Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
- Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression
- Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
- Inherited Dystonia
- Inherited Neurodegenerative Disorder
- Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
- Intellectual Developmental Disorder With Autism And Macrocephaly
- Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
- Intellectual Developmental Disorder With Language Impairment And Early-Onset DOPA-Responsive Dystonia-Parkinsonism
- Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
- Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
- Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
- Intellectual Disability Syndrome Due To A DYRK1A Point Mutation
- Intellectual Disability, Anterior Maxillary Protrusion, And Strabismus
- Intellectual Disability, Autosomal Dominant 1
- Intellectual Disability, Autosomal Dominant 10
- Intellectual Disability, Autosomal Dominant 11
- Intellectual Disability, Autosomal Dominant 13
- Intellectual Disability, Autosomal Dominant 14
- Intellectual Disability, Autosomal Dominant 15
- Intellectual Disability, Autosomal Dominant 16
- Intellectual Disability, Autosomal Dominant 2
- Intellectual Disability, Autosomal Dominant 22
- Intellectual Disability, Autosomal Dominant 24
- Intellectual Disability, Autosomal Dominant 29
- Intellectual Disability, Autosomal Dominant 3
- Intellectual Disability, Autosomal Dominant 30
- Intellectual Disability, Autosomal Dominant 33
- Intellectual Disability, Autosomal Dominant 34
- Intellectual Disability, Autosomal Dominant 38
- Intellectual Disability, Autosomal Dominant 39
- Intellectual Disability, Autosomal Dominant 4
- Intellectual Disability, Autosomal Dominant 40
- Intellectual Disability, Autosomal Dominant 41
- Intellectual Disability, Autosomal Dominant 42
- Intellectual Disability, Autosomal Dominant 43
- Intellectual Disability, Autosomal Dominant 45
- Intellectual Disability, Autosomal Dominant 46
- Intellectual Disability, Autosomal Dominant 47
- Intellectual Disability, Autosomal Dominant 48
- Intellectual Disability, Autosomal Dominant 5
- Intellectual Disability, Autosomal Dominant 50
- Intellectual Disability, Autosomal Dominant 51
- Intellectual Disability, Autosomal Dominant 52
- Intellectual Disability, Autosomal Dominant 53
- Intellectual Disability, Autosomal Dominant 54
- Intellectual Disability, Autosomal Dominant 55, With Seizures
- Intellectual Disability, Autosomal Dominant 56
- Intellectual Disability, Autosomal Dominant 57
- Intellectual Disability, Autosomal Dominant 58
- Intellectual Disability, Autosomal Dominant 6
- Intellectual Disability, Autosomal Dominant 9
- Intellectual Disability, Autosomal Recessive 1
- Intellectual Disability, Autosomal Recessive 10
- Intellectual Disability, Autosomal Recessive 11
- Intellectual Disability, Autosomal Recessive 12
- Intellectual Disability, Autosomal Recessive 13
- Intellectual Disability, Autosomal Recessive 14
- Intellectual Disability, Autosomal Recessive 16
- Intellectual Disability, Autosomal Recessive 18
- Intellectual Disability, Autosomal Recessive 19
- Intellectual Disability, Autosomal Recessive 2
- Intellectual Disability, Autosomal Recessive 23
- Intellectual Disability, Autosomal Recessive 24
- Intellectual Disability, Autosomal Recessive 25
- Intellectual Disability, Autosomal Recessive 27
- Intellectual Disability, Autosomal Recessive 28
- Intellectual Disability, Autosomal Recessive 29
- Intellectual Disability, Autosomal Recessive 3
- Intellectual Disability, Autosomal Recessive 30
- Intellectual Disability, Autosomal Recessive 31
- Intellectual Disability, Autosomal Recessive 33
- Intellectual Disability, Autosomal Recessive 34
- Intellectual Disability, Autosomal Recessive 4
- Intellectual Disability, Autosomal Recessive 42
- Intellectual Disability, Autosomal Recessive 43
- Intellectual Disability, Autosomal Recessive 44
- Intellectual Disability, Autosomal Recessive 45
- Intellectual Disability, Autosomal Recessive 46
- Intellectual Disability, Autosomal Recessive 47
- Intellectual Disability, Autosomal Recessive 5
- Intellectual Disability, Autosomal Recessive 50
- Intellectual Disability, Autosomal Recessive 51
- Intellectual Disability, Autosomal Recessive 52
- Intellectual Disability, Autosomal Recessive 53
- Intellectual Disability, Autosomal Recessive 54
- Intellectual Disability, Autosomal Recessive 56
- Intellectual Disability, Autosomal Recessive 57
- Intellectual Disability, Autosomal Recessive 58
- Intellectual Disability, Autosomal Recessive 59
- Intellectual Disability, Autosomal Recessive 6
- Intellectual Disability, Autosomal Recessive 60
- Intellectual Disability, Autosomal Recessive 61
- Intellectual Disability, Autosomal Recessive 63
- Intellectual Disability, Autosomal Recessive 64
- Intellectual Disability, Autosomal Recessive 65
- Intellectual Disability, Autosomal Recessive 66
- Intellectual Disability, Autosomal Recessive 7
- Intellectual Disability, Autosomal Recessive 9
- Intellectual Disability, Buenos-Aires Type
- Intellectual Disability, Wolff Type
- Intellectual Disability, X-Linked 1
- Intellectual Disability, X-Linked 100
- Intellectual Disability, X-Linked 101
- Intellectual Disability, X-Linked 102
- Intellectual Disability, X-Linked 103
- Intellectual Disability, X-Linked 104
- Intellectual Disability, X-Linked 105
- Intellectual Disability, X-Linked 106
- Intellectual Disability, X-Linked 107
- Intellectual Disability, X-Linked 14
- Intellectual Disability, X-Linked 19
- Intellectual Disability, X-Linked 2
- Intellectual Disability, X-Linked 20
- Intellectual Disability, X-Linked 21
- Intellectual Disability, X-Linked 23
- Intellectual Disability, X-Linked 30
- Intellectual Disability, X-Linked 41
- Intellectual Disability, X-Linked 42
- Intellectual Disability, X-Linked 45
- Intellectual Disability, X-Linked 46
- Intellectual Disability, X-Linked 49
- Intellectual Disability, X-Linked 50
- Intellectual Disability, X-Linked 53
- Intellectual Disability, X-Linked 58
- Intellectual Disability, X-Linked 61
- Intellectual Disability, X-Linked 63
- Intellectual Disability, X-Linked 72
- Intellectual Disability, X-Linked 73
- Intellectual Disability, X-Linked 77
- Intellectual Disability, X-Linked 81
- Intellectual Disability, X-Linked 82
- Intellectual Disability, X-Linked 84
- Intellectual Disability, X-Linked 88
- Intellectual Disability, X-Linked 89
- Intellectual Disability, X-Linked 9
- Intellectual Disability, X-Linked 90
- Intellectual Disability, X-Linked 91
- Intellectual Disability, X-Linked 92
- Intellectual Disability, X-Linked 93
- Intellectual Disability, X-Linked 95
- Intellectual Disability, X-Linked 96
- Intellectual Disability, X-Linked 97
- Intellectual Disability, X-Linked 99
- Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted
- Intellectual Disability, X-Linked Syndromic, Turner Type
- Intellectual Disability, X-Linked, Syndromic 33
- Intellectual Disability, X-Linked, Syndromic, 35
- Intellectual Disability, X-Linked, Syndromic, Bain Type
- Intellectual Disability, X-Linked, Syndromic, Houge Type
- Intellectual Disability, X-Linked, With Or Without Seizures, ARX-Related
- Intellectual Disability, X-Linked, With Panhypopituitarism
- Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
- Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
- Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
- Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome
- Intellectual Disability-Epilepsy-Dental Anomalies-Facial Dysmorphism Syndrome
- Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
- Intellectual Disability-Facial Dysmorphism Syndrome Due To SETD5 Haploinsufficiency
- Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
- Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
- Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
- Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
- Intellectual Disability-Hypotonia-Spasticity-Sleep Disorder Syndrome
- Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
- Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome
- Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
- Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
- Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
- Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
- Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
- Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
- Intellectual Disability-Short Stature-Hypertelorism Syndrome
- Intellectual Disability-Spasticity-Ectrodactyly Syndrome
- Intellectual Disability-Strabismus Syndrome
- Intermediate DEND Syndrome
- Intracerebral Cystic Meningioma
- Ischemic Neuropathy
- Isolated Bilateral Hemispheric Cerebellar Hypoplasia
- Isolated Cerebellar Vermis Agenesis
- Isolated Cerebellar Vermis Hypoplasia
- Isolated Congenital Microcephaly
- Isolated Dystonia
- Isolated Encephalocele
- Isolated Focal Cortical Dysplasia
- Isolated Microcephaly
- Isolated Partial Cerebellar Vermis Agenesis
- Isolated Total Cerebellar Vermis Agenesis
- Isolated Unilateral Hemispheric Cerebellar Hypoplasia
- ITM2B Amyloidosis
J6
K6
L70
- Lafora Disease
- Lambert Syndrome
- Landau-Kleffner Syndrome
- Laryngeal Abductor Paralysis With Intellectual Disability Syndrome
- Laryngeal Dystonia
- Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome
- Leber Hereditary Optic Neuropathy, Autosomal Recessive
- Leber Optic Atrophy And Dystonia
- Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1
- Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
- Leigh Syndrome
- Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome
- Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due To A Point Mutation
- Leukodystrophy
- Leukodystrophy, Adult-Onset, Autosomal Dominant, Without Amyloid Angiopathy
- Leukodystrophy, Childhood-Onset, Remitting
- Leukodystrophy, Demyelinating, Adult-Onset
- Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant, Atypical
- Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant, Typical
- Leukodystrophy, Hypomyelinating, 14
- Leukodystrophy, Hypomyelinating, 15
- Leukodystrophy, Hypomyelinating, 16
- Leukodystrophy, Hypomyelinating, 17
- Leukodystrophy, Hypomyelinating, 18
- Leukodystrophy, Hypomyelinating, 19, Transient Infantile
- Leukodystrophy, Hypomyelinating, 20
- Leukodystrophy, Hypomyelinating, 21
- Leukodystrophy, Hypomyelinating, 22
- Leukodystrophy, Hypomyelinating, 24
- Leukodystrophy, Hypomyelinating, 25
- Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
- Leukodystrophy, Hypomyelinating, 27
- Leukodystrophy, Hypomyelinating, 28
- Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism
- Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts
- Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
- Leukoencephalopathy With Calcifications And Cysts
- Leukoencephalopathy With Mild Cerebellar Ataxia And White Matter Edema
- Leukoencephalopathy With Vanishing White Matter 1
- Leukoencephalopathy With Vanishing White Matter 2
- Leukoencephalopathy With Vanishing White Matter 3
- Leukoencephalopathy With Vanishing White Matter 4
- Leukoencephalopathy With Vanishing White Matter 5
- Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
- Leukoencephalopathy, Ataxia, Hypodontia, Hypomyelination Syndrome
- Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1
- Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
- Leukoencephalopathy, Porphyria-Related
- Leukoencephalopathy, Progressive, With Ovarian Failure
- Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
- Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome
- Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
- Lewis-Sumner Syndrome
- Lichtenstein-Knorr Syndrome
- Linear Hypopigmentation And Craniofacial Asymmetry With Acral, Ocular And Brain Anomalies
- Lipodystrophy-Intellectual Disability-Deafness Syndrome
- Lissencephaly 6 With Microcephaly
- Lissencephaly 7 With Cerebellar Hypoplasia
- Lissencephaly 9 With Complex Brainstem Malformation
- Lissencephaly Spectrum Disorder With Complex Brainstem Malformation
- Lissencephaly With Cerebellar Hypoplasia
- Lissencephaly With Cerebellar Hypoplasia Type A
- Lissencephaly With Cerebellar Hypoplasia Type B
- Lissencephaly With Cerebellar Hypoplasia Type C
- Lissencephaly With Cerebellar Hypoplasia Type D
- Lissencephaly With Cerebellar Hypoplasia Type E
- Lissencephaly With Cerebellar Hypoplasia Type F
- Lobar Holoprosencephaly
- Lowry-Wood Syndrome
- Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
M157
- Machado-Joseph Disease Type 1
- Machado-Joseph Disease Type 2
- Machado-Joseph Disease Type 3
- Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
- Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
- Macrogyria, Pseudobulbar Palsy And Intellectual Disability
- Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
- Malignant Migrating Partial Seizures Of Infancy
- Malignant Neoplasm Of Brain
- MAN1B1-Congenital Disorder Of Glycosylation
- Mandibulofacial Dysostosis-Microcephaly Syndrome
- Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
- MASA Syndrome
- Maternally-Inherited Leigh Syndrome
- Maternally-Inherited Mitochondrial Dystonia
- Maternally-Inherited Spastic Paraplegia
- MED12-Related Intellectual Disability Syndrome
- Median Nerve Neuropathy
- MEDNIK Syndrome
- Megalencephalic Leukoencephalopathy With Subcortical Cysts
- Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
- Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
- Megalencephalic Leukoencephalopathy With Subcortical Cysts 2B, Remitting, With Or Without Intellectual Disability
- Megalocornea-Intellectual Disability Syndrome
- MEHMO Syndrome
- Meningoencephalocele
- Meningohydroencephalocele
- MERRF Syndrome
- Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis
- Mesomelic Dysplasia-Digital Anomalies-Intellectual Disability Syndrome
- Metachromatic Leukodystrophy
- Metachromatic Leukodystrophy, Adult Type
- Metachromatic Leukodystrophy, Juvenile Type
- Metachromatic Leukodystrophy, Late Infantile Form
- Metaphyseal Acroscyphodysplasia
- Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
- Metastatic Malignant Neoplasm In The Brain
- Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
- Microcephaly 1, Primary, Autosomal Recessive
- Microcephaly 11, Primary, Autosomal Recessive
- Microcephaly 12, Primary, Autosomal Recessive
- Microcephaly 13, Primary, Autosomal Recessive
- Microcephaly 14, Primary, Autosomal Recessive
- Microcephaly 15, Primary, Autosomal Recessive
- Microcephaly 16, Primary, Autosomal Recessive
- Microcephaly 17, Primary, Autosomal Recessive
- Microcephaly 18, Primary, Autosomal Dominant
- Microcephaly 19, Primary, Autosomal Recessive
- Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
- Microcephaly 20, Primary, Autosomal Recessive
- Microcephaly 21, Primary, Autosomal Recessive
- Microcephaly 22, Primary, Autosomal Recessive
- Microcephaly 23, Primary, Autosomal Recessive
- Microcephaly 24, Primary, Autosomal Recessive
- Microcephaly 25, Primary, Autosomal Recessive
- Microcephaly 26, Primary, Autosomal Dominant
- Microcephaly 27, Primary, Autosomal Dominant
- Microcephaly 28, Primary, Autosomal Recessive
- Microcephaly 29, Primary, Autosomal Recessive
- Microcephaly 3, Primary, Autosomal Recessive
- Microcephaly 30, Primary, Autosomal Recessive
- Microcephaly 4, Primary, Autosomal Recessive
- Microcephaly 5, Primary, Autosomal Recessive
- Microcephaly 6 With Or Without Short Stature
- Microcephaly 6, Primary, Autosomal Recessive
- Microcephaly 7, Primary, Autosomal Recessive
- Microcephaly 8, Primary, Autosomal Recessive
- Microcephaly 9, Primary, Autosomal Recessive
- Microcephaly And Chorioretinopathy
- Microcephaly And Chorioretinopathy 1
- Microcephaly And Chorioretinopathy 2
- Microcephaly And Chorioretinopathy 3
- Microcephaly Micropenis Convulsions
- Microcephaly Sparse Hair Intellectual Disability Seizures
- Microcephaly With Intellectual Disability
- Microcephaly With Lissencephaly And/or Hydranencephaly
- Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability
- Microcephaly With Or Without Short Stature
- Microcephaly With Simplified Gyral Pattern
- Microcephaly, Epilepsy, And Diabetes Syndrome 1
- Microcephaly, Epilepsy, And Diabetes Syndrome 2
- Microcephaly, Growth Restriction And Increased Sister Chromatid Exchange
- Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
- Microcephaly, Normal Intelligence And Immunodeficiency
- Microcephaly, Seizures, And Developmental Delay
- Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
- Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
- Microcephaly, Short Stature, And Limb Abnormalities
- Microcephaly-Albinism-Digital Anomalies Syndrome
- Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
- Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
- Microcephaly-Capillary Malformation Syndrome
- Microcephaly-Cervical Spine Fusion Anomalies Syndrome
- Microcephaly-Cleft Palate Syndrome
- Microcephaly-Complex Motor And Sensory Axonal Neuropathy Syndrome
- Microcephaly-Congenital Cataract-Psoriasiform Dermatitis Syndrome
- Microcephaly-Deafness-Intellectual Disability Syndrome
- Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
- Microcephaly-Facio-Cardio-Skeletal Syndrome, Hadziselimovic Type
- Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
- Microcephaly-Intellectual Disability-Phalangeal And Neurological Anomalies Syndrome
- Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
- Microcephaly-Microcornea Syndrome, Seemanova Type
- Microcephaly-Micromelia Syndrome
- Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
- Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
- Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome
- Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
- Microform Holoprosencephaly
- Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
- Microphthalmia With Brain And Digit Anomalies
- Microphthalmia-Brain Atrophy Syndrome
- Mietens Syndrome
- Mikati-Najjar-Sahli Syndrome
- Mitochondrial DNA Depletion Syndrome 13
- Mitochondrial DNA Depletion Syndrome 14 (cardioencephalomyopathic Type)
- Mitochondrial DNA Depletion Syndrome 15 (hepatocerebral Type)
- Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type)
- Mitochondrial DNA Depletion Syndrome 6 (hepatocerebral Type)
- Mitochondrial DNA Depletion Syndrome 8a
- Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form
- Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
- MME-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2
- MMEP Syndrome
- Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome
- MOMO Syndrome
- Monogenic Epilepsy
- MORM Syndrome
- Mowat-Wilson Syndrome
- Mowat-Wilson Syndrome Due To A ZEB2 Point Mutation
- Mowat-Wilson Syndrome Due To Monosomy 2q22
- Moynahan Syndrome
- Mulibrey Nanism Syndrome
- Multifocal Dystonia
- Multifocal Motor Neuropathy
- Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome
- Multiple Congenital Anomalies/dysmorphic Syndrome Without Intellectual Disability
- Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability
- Multiple Congenital Anomalies/dysmorphic Syndrome-Variable Intellectual Disability Syndrome
- Multiple System Atrophy, Cerebellar Type
- Multiple System Atrophy, Parkinsonian Type
- Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
- Myhre Syndrome
- Myoclonic Cerebellar Dyssynergia
- Myoclonic Dystonia 11
- Myoclonic Dystonia 15
- Myoclonic Dystonia 26
- Myoclonic Epilepsy
- Myoclonic Epilepsy In Infancy
- Myoclonic Epilepsy In Non-Progressive Encephalopathies
- Myoclonic Epilepsy Of Lafora 1
- Myoclonic Epilepsy Of Lafora 2
- Myoclonic Epilepsy, Hartung Type
- Myoclonic Epilepsy, Juvenile, 2
- Myoclonus-Cerebellar Ataxia-Deafness Syndrome
- Myoclonus-Dystonia Syndrome
- MYT1L-Related Developmental Delay-Intellectual Disability-Obesity Syndrome
N96
- NACC1-Related Neurodevelopmental Disorder With Epilepsy, Cataracts And Episodic Irritability
- NARP Syndrome
- Nasal Encephalocele
- Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
- Neonatal Asphyxia
- Neonatal Brainstem Dysfunction
- Neonatal Encephalopathy With Non-Epileptic Myoclonus
- Neonatal Epilepsy Syndrome
- Neonatal Glycine Encephalopathy
- Neonatal-Onset Developmental And Epileptic Encephalopathy
- Neonatal-Onset Encephalopathy With Rigidity And Seizures
- Neonatal/infantile-Onset Epilepsy Syndrome With Developmental And Epileptic Encephalopathy
- Neonatal/infantile-Onset Self-Limited Epilepsy Syndrome
- Neuralgic Amyotrophy
- Neurodegeneration And Seizures Due To Copper Transport Defect
- Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
- Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
- Neurodegeneration With Brain Iron Accumulation
- Neurodegeneration With Brain Iron Accumulation 2B
- Neurodegeneration With Brain Iron Accumulation 4
- Neurodegeneration With Brain Iron Accumulation 5
- Neurodegeneration With Brain Iron Accumulation 6
- Neurodegeneration With Brain Iron Accumulation 7
- Neurodegeneration With Brain Iron Accumulation 8
- Neurodegeneration With Brain Iron Accumulation 9
- Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
- Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
- Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
- Neurodegeneration, Childhood-Onset, With Cerebellar Ataxia And Cognitive Decline
- Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
- Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
- Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
- Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
- Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
- Neurodegeneration, Infantile-Onset, Biotin-Responsive
- Neurodegenerative Disorder, X-Linked, Female-Restricted, With Parkinsonism And Cognitive Impairment
- Neurodevelopmental Disorder With Alopecia And Brain Abnormalities
- Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
- Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
- Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
- Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
- Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
- Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
- Neurodevelopmental Disorder With Hypotonia And Characteristic Brain Abnormalities
- Neurodevelopmental Disorder With Hypotonia, Brain Anomalies, Distinctive Facies, And Absent Language
- Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
- Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
- Neurodevelopmental Disorder With Microcephaly And Dysmorphic Facies
- Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
- Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
- Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
- Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
- Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
- Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
- Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
- Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
- Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
- Neurodevelopmental Disorder With Or Without Autistic Features And/or Structural Brain Abnormalities
- Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
- Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities; NEDBA
- Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
- Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
- Neurodevelopmental Disorder With Seizures And Brain Atrophy
- Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
- Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
- Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
- Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
- Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
- Neuroferritinopathy
- Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
- Neuropathy With Hearing Impairment
- Neuropathy, Congenital Hypomyelinating, 2
- Neuropathy, Congenital Hypomyelinating, 3
- Neuropathy, Hereditary Motor And Sensory, Type 6A
- Neuropathy, Hereditary Motor And Sensory, Type 6B
- Neuropathy, Hereditary Motor And Sensory, Type VIc, With Optic Atrophy
- Neuropathy, Hereditary Sensory And Autonomic, Type 1A
- Neuropathy, Hereditary Sensory And Autonomic, Type 1C
- Neuropathy, Hereditary Sensory And Autonomic, Type 2A
- Neuropathy, Hereditary Sensory And Autonomic, Type 2B
- Neuropathy, Hereditary Sensory And Autonomic, Type IId
- Neuropathy, Hereditary Sensory, Atypical
- Neuropathy, Hereditary Sensory, Type 1D
- Neuropathy, Hereditary Sensory, Type 1F
- Neuropathy, Hereditary Sensory, Type 2C
- New-Onset Refractory Status Epilepticus
- Nicolaides-Baraitser Syndrome
- Nijmegen Breakage Syndrome-Like Disorder
- Nocturnal Paroxysmal Dystonia
- Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
- Non-Specific Autoimmune Brainstem Encephalitis With Characteristic Antibodies
- Non-Specific Autoimmune Brainstem Encephalitis Without Characteristic Antibodies
- Non-Specific Autoimmune Cerebellar Ataxia With Characteristic Antibodies
- Non-Specific Autoimmune Cerebellar Ataxia Without Characteristic Antibodies
- Non-Syndromic X-Linked Intellectual Disability
- Nonarteritic Anterior Ischemic Optic Neuropathy
O23
- Occipital Encephalocele
- Occupational Dystonia
- Oculo-Palato-Cerebral Syndrome
- Oculocerebral Hypopigmentation Syndrome Of Preus
- Oculocerebrocutaneous Syndrome
- Oculorenocerebellar Syndrome
- Odontoleukodystrophy
- Oliver Syndrome
- Olivopontocerebellar Atrophy
- Olivopontocerebellar Atrophy-Deafness Syndrome
- Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
- Opsoclonus-Myoclonus Syndrome
- Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
- Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
- Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
- Organophosphate-Induced Delayed Polyneuropathy
- Orofaciodigital Syndrome Type 14
- Oromandibular Dystonia
- Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
- Osteopenia-Intellectual Disability-Sparse Hair Syndrome
- Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
- Osteopetrosis With Renal Tubular Acidosis
- Overgrowth Syndrome And/or Cerebral Malformations Due To Abnormalities In MTOR Pathway Genes
P138
- Pachygyria-Intellectual Disability-Epilepsy Syndrome
- Pancreatic Agenesis-Holoprosencephaly Syndrome
- Paraneoplastic Cerebellar Degeneration
- Paraneoplastic Isolated Brainstem Encephalitis
- Paraneoplastic Polyneuropathy
- Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
- Parietal Encephalocele
- Parkinson Disease 10
- Parkinson Disease 12
- Parkinson Disease 17
- Parkinson Disease 19B, Early-Onset
- Parkinson Disease 21
- Parkinson Disease 22, Autosomal Dominant
- Parkinson Disease 3, Autosomal Dominant
- Parkinson Disease, Late-Onset
- Parkinsonian-Pyramidal Syndrome
- Parkinsonism With Dementia Of Guadeloupe
- Parkinsonism With Polyneuropathy
- Parkinsonism-Dystonia 3, Childhood-Onset
- Parkinsonism-Dystonia, Infantile
- Paroxysmal Dystonia
- Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia With Posterior Fossa Cysts Syndrome
- Partial Lipodystrophy, Congenital Cataracts, And Neurodegeneration Syndrome
- Partington Syndrome
- Pediatric Cerebral Ependymoblastoma
- PEHO Syndrome
- Pelizaeus-Merzbacher Disease
- Periodic Paralysis With Later-Onset Distal Motor Neuropathy
- Peripheral Axonal Neuropathy
- Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
- Peripheral Motor Neuropathy-Dysautonomia Syndrome
- Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
- Peroneal Neuropathy
- Perry Syndrome
- Pettigrew Syndrome
- PHARC Syndrome
- PHIP-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
- Photogenic Epilepsy
- Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy And Cerebral Dysfunction
- Phytanic Acid Storage Disease
- Pigmentary Pallidal Degeneration
- PLA2G6-Associated Neurodegeneration
- PNPLA6-Related Spastic Paraplegia With Or Without Ataxia
- POEMS Syndrome
- POLR-Related Leukodystrophy
- POLR3-Related Leukodystrophy
- Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
- Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
- Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephaly
- Polyendocrine-Polyneuropathy Syndrome
- Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
- Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
- Polyneuropathy Associated With IgM Monoclonal Gammapathy With Anti-MAG
- Polyneuropathy In Collagen Vascular Disease
- Polyneuropathy, Inflammatory Demyelinating, Chronic
- Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
- Polyneuropathy-Hand Defect Syndrome
- Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
- Polyradiculoneuropathy
- Polyradiculoneuropathy Associated With IgG/IgA/IgM Monoclonal Gammopathy Without Known Antibodies
- Pontocerebellar Hypoplasia Type 10
- Pontocerebellar Hypoplasia Type 1A
- Pontocerebellar Hypoplasia Type 1B
- Pontocerebellar Hypoplasia Type 2
- Pontocerebellar Hypoplasia Type 2A
- Pontocerebellar Hypoplasia Type 2B
- Pontocerebellar Hypoplasia Type 2C
- Pontocerebellar Hypoplasia Type 2D
- Pontocerebellar Hypoplasia Type 2E
- Pontocerebellar Hypoplasia Type 3
- Pontocerebellar Hypoplasia Type 4
- Pontocerebellar Hypoplasia Type 5
- Pontocerebellar Hypoplasia Type 6
- Pontocerebellar Hypoplasia Type 7
- Pontocerebellar Hypoplasia Type 8
- Pontocerebellar Hypoplasia Type 9
- Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
- Pontocerebellar Hypoplasia, IIA 17
- Pontocerebellar Hypoplasia, Type 11
- Pontocerebellar Hypoplasia, Type 12
- Pontocerebellar Hypoplasia, Type 13
- Pontocerebellar Hypoplasia, Type 14
- Pontocerebellar Hypoplasia, Type 15
- Pontocerebellar Hypoplasia, Type 16
- Pontocerebellar Hypoplasia, Type 1C
- Pontocerebellar Hypoplasia, Type 1D
- Pontocerebellar Hypoplasia, Type 1E
- Pontocerebellar Hypoplasia, Type 1F
- Pontocerebellar Hypoplasia, Type 2F
- Pontoneocerebellar Hypoplasia
- Porencephaly-Cerebellar Hypoplasia-Internal Malformations Syndrome
- Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome
- Postencephalitic Parkinson Disease
- Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
- Postinfectious Cerebellitis
- PPP2R1A-Related Intellectual Disability
- Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
- Primary Central Nervous System Lymphoma
- Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome
- Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
- Primary Oculocerebral Lymphoma
- PRKAR1B-Related Neurodegenerative Dementia With Intermediate Filaments
- Progressive Cavitating Leukoencephalopathy
- Progressive Dementia With Neuroserpin Inclusion Bodies
- Progressive Demyelinating Neuropathy With Bilateral Striatal Necrosis
- Progressive Encephalomyelitis With Rigidity And Myoclonus
- Progressive Encephalopathy With Leukodystrophy Due To DECR Deficiency
- Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
- Progressive Hypotonia-Intellectual Disability-Facial Dysmorphism Syndrome Due To FYVE-Defective RBSN
- Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
- Progressive Multifocal Leukoencephalopathy
- Progressive Myoclonic Epilepsy
- Progressive Myoclonic Epilepsy Type 3
- Progressive Myoclonic Epilepsy Type 6
- Progressive Myoclonic Epilepsy Type 7
- Progressive Myoclonic Epilepsy Type 8
- Progressive Myoclonic Epilepsy Type 9
- Progressive Myoclonic Epilepsy With Dystonia
- Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
- Progressive Supranuclear Palsy-Parkinsonism Syndrome
- Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
- Prostate Cancer/brain Cancer Susceptibility
- Proximal Tubulopathy-Diabetes Mellitus-Cerebellar Ataxia Syndrome
- PrP Systemic Amyloidosis
- Pseudo-TORCH Syndrome
- Pseudoprogeria Syndrome
- Psychogenic Movement Disorders
- Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
- Pudendal Neuralgia
- PUM1-Associated Developmental Disability-Ataxia-Seizure Syndrome
- PURA-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
- PURA-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
- Pure Hereditary Spastic Paraplegia
- Pure Or Complex Hereditary Spastic Paraplegia
- Pyridoxal Phosphate-Responsive Seizures
- Pyridoxine-Dependent Epilepsy
- Pyridoxine-Dependent Epilepsy Caused By ALDH7A1 Mutant
- Pyruvate Carboxylase Deficiency
R25
- Radial Neuropathy
- Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
- Rajab Interstitial Lung Disease With Brain Calcifications
- Rajab Interstitial Lung Disease With Brain Calcifications 1
- Rajab Interstitial Lung Disease With Brain Calcifications 2
- Ramon Syndrome
- Ramos-Arroyo Syndrome
- Ravine Syndrome
- Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
- Recessive Mitochondrial Ataxia Syndrome
- Reflex Epilepsy
- Relapsing Isolated Optic Neuritis
- Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome
- Renpenning Syndrome
- Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
- Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogenitalism Syndrome
- Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
- Retrocerebellar Cyst
- Rett Syndrome
- Reversible Cerebral Vasoconstriction Syndrome
- Rhombencephalosynapsis
- Richards-Rundle Syndrome
- Rolandic Epilepsy, Intellectual Disability, And Speech Dyspraxia, X-Linked
- Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer's Cramp Syndrome
- Rolandic Epilepsy-Speech Dyspraxia Syndrome
S187
- Sanjad Sakati Syndrome
- Say-Barber-Miller Syndrome
- Segmental Dystonia
- Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
- Self-Limited Childhood Occipital Epilepsy
- Self-Limited Epilepsy With Autonomic Seizures
- Self-Limited Epilepsy With Centrotemporal Spikes
- Self-Limited Familial Infantile Epilepsy
- Self-Limited Familial Neonatal-Infantile Epilepsy
- Semilobar Holoprosencephaly
- Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
- SETD2-Related Microcephaly-Severe Intellectual Disability-Multiple Congenital Anomalies Syndrome
- Severe Congenital Myelofibrosis-Pancytopenia-Intellectual Disability-Neurologic And Ophthalmic Abnormalities Syndrome
- Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
- Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
- Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
- Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
- Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
- Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
- Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
- Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
- Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
- Severe Myoclonic Epilepsy In Infancy
- Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5q31.3 Microdeletion
- Severe Neonatal-Onset Encephalopathy With Microcephaly
- Severe Neurodegenerative Syndrome With Lipodystrophy
- Severe X-Linked Intellectual Disability, Gustavson Type
- Short Stature, Microcephaly, And Endocrine Dysfunction
- Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
- Short Stature-Pituitary And Cerebellar Defects-Small Sella Turcica Syndrome
- Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
- SIN3A-Related Intellectual Disability Syndrome
- SIN3A-Related Intellectual Disability Syndrome Due To A Point Mutation
- Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
- Skeletal Dysplasia-Intellectual Disability Syndrome
- SLC12A2-Related Developmental Delay-Intellectual Disability-Sensorineural Deafness Syndrome
- Sleep-Related Hypermotor Epilepsy
- Small Fiber Neuropathy
- Sotos Syndrome
- Spastic Ataxia
- Spastic Ataxia 1
- Spastic Ataxia 10, Autosomal Recessive
- Spastic Ataxia 11, Autosomal Dominant
- Spastic Ataxia 2
- Spastic Ataxia 3
- Spastic Ataxia 4
- Spastic Ataxia 5
- Spastic Ataxia 7
- Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
- Spastic Ataxia 9, Autosomal Recessive
- Spastic Ataxia-Corneal Dystrophy Syndrome
- Spastic Ataxia-Dysarthria Due To Glutaminase Deficiency
- Spastic Diplegia And Intellectual Disability
- Spastic Paraplegia 18a, Autosomal Dominant
- Spastic Paraplegia 18b, Autosomal Recessive
- Spastic Paraplegia 30A, Autosomal Dominant
- Spastic Paraplegia 30B, Autosomal Recessive
- Spastic Paraplegia 72b, Autosomal Recessive
- Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
- Spastic Paraplegia 80, Autosomal Dominant
- Spastic Paraplegia 81, Autosomal Recessive
- Spastic Paraplegia 82, Autosomal Recessive
- Spastic Paraplegia 83, Autosomal Recessive
- Spastic Paraplegia 84, Autosomal Recessive
- Spastic Paraplegia 85, Autosomal Recessive
- Spastic Paraplegia 86, Autosomal Recessive
- Spastic Paraplegia 87, Autosomal Recessive
- Spastic Paraplegia 88, Autosomal Dominant
- Spastic Paraplegia 89, Autosomal Recessive
- Spastic Paraplegia 90A, Autosomal Dominant
- Spastic Paraplegia 90B, Autosomal Recessive
- Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
- Spastic Paraplegia 92, Autosomal Recessive
- Spastic Paraplegia 93, Autosomal Recessive
- Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
- Spastic Paraplegia, Optic Atropy, And Neuropathy
- Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome
- Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
- Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
- Spastic Paraplegia-Nephritis-Deafness Syndrome
- Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
- Spastic Paraplegia-Paget Disease Of Bone Syndrome
- Spastic Paraplegia-Precocious Puberty Syndrome
- Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
- Spastic Quadriplegic Cerebral Palsy
- Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
- Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
- Spasticity-Ataxia-Gait Anomalies Syndrome
- Spinocerebellar Ataxia 27A
- Spinocerebellar Ataxia 27B, Late-Onset
- Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
- Spinocerebellar Ataxia 43
- Spinocerebellar Ataxia 44
- Spinocerebellar Ataxia 45
- Spinocerebellar Ataxia 46
- Spinocerebellar Ataxia 47
- Spinocerebellar Ataxia 48
- Spinocerebellar Ataxia 49
- Spinocerebellar Ataxia 50
- Spinocerebellar Ataxia 51
- Spinocerebellar Ataxia 7
- Spinocerebellar Ataxia 9
- Spinocerebellar Ataxia Type 1
- Spinocerebellar Ataxia Type 10
- Spinocerebellar Ataxia Type 11
- Spinocerebellar Ataxia Type 12
- Spinocerebellar Ataxia Type 13
- Spinocerebellar Ataxia Type 14
- Spinocerebellar Ataxia Type 15/16
- Spinocerebellar Ataxia Type 17
- Spinocerebellar Ataxia Type 18
- Spinocerebellar Ataxia Type 19/22
- Spinocerebellar Ataxia Type 2
- Spinocerebellar Ataxia Type 20
- Spinocerebellar Ataxia Type 21
- Spinocerebellar Ataxia Type 23
- Spinocerebellar Ataxia Type 25
- Spinocerebellar Ataxia Type 26
- Spinocerebellar Ataxia Type 27
- Spinocerebellar Ataxia Type 28
- Spinocerebellar Ataxia Type 29
- Spinocerebellar Ataxia Type 30
- Spinocerebellar Ataxia Type 31
- Spinocerebellar Ataxia Type 32
- Spinocerebellar Ataxia Type 34
- Spinocerebellar Ataxia Type 35
- Spinocerebellar Ataxia Type 36
- Spinocerebellar Ataxia Type 37
- Spinocerebellar Ataxia Type 38
- Spinocerebellar Ataxia Type 4
- Spinocerebellar Ataxia Type 40
- Spinocerebellar Ataxia Type 41
- Spinocerebellar Ataxia Type 42
- Spinocerebellar Ataxia Type 5
- Spinocerebellar Ataxia Type 6
- Spinocerebellar Ataxia Type 8
- Spinocerebellar Ataxia With Epilepsy
- Spinocerebellar Ataxia, Autosomal Recessive 22
- Spinocerebellar Ataxia, Autosomal Recessive 23
- Spinocerebellar Ataxia, Autosomal Recessive 24
- Spinocerebellar Ataxia, Autosomal Recessive 25
- Spinocerebellar Ataxia, Autosomal Recessive 26
- Spinocerebellar Ataxia, Autosomal Recessive 27
- Spinocerebellar Ataxia, Autosomal Recessive 28
- Spinocerebellar Ataxia, Autosomal Recessive 29
- Spinocerebellar Ataxia, Autosomal Recessive 30
- Spinocerebellar Ataxia, Autosomal Recessive 31
- Spinocerebellar Ataxia, Autosomal Recessive 32
- Spinocerebellar Ataxia, Autosomal Recessive 33
- Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy
- Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
- Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
- Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
- Spinocerebellar Ataxia, X-Linked 2
- Spinocerebellar Ataxia-Dysmorphism Syndrome
- Spinocerebellar Degeneration With Slow Eye Movements
- Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
- Spondyloepimetaphyseal Dysplasia, Bieganski Type
- Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Intellectual Disability
- Spongiform Encephalopathy With Neuropsychiatric Features
- Spongy Degeneration Of Central Nervous System
- Sporadic Adult-Onset Ataxia Of Unknown Etiology
- Sporadic Fetal Brain Disruption Sequence
- Startle Epilepsy
- Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
- Stromme Syndrome
- Sturge-Weber Syndrome
- Subacute Inflammatory Demyelinating Polyneuropathy
- Susac Syndrome
- Syndromic X-Linked Intellectual Disability 12
- Syndromic X-Linked Intellectual Disability 14
- Syndromic X-Linked Intellectual Disability 17
- Syndromic X-Linked Intellectual Disability 34
- Syndromic X-Linked Intellectual Disability 7
- Syndromic X-Linked Intellectual Disability 94
- Syndromic X-Linked Intellectual Disability Abidi Type
- Syndromic X-Linked Intellectual Disability Chudley-Schwartz Type
- Syndromic X-Linked Intellectual Disability Claes-Jensen Type
- Syndromic X-Linked Intellectual Disability Hedera Type
- Syndromic X-Linked Intellectual Disability Lubs Type
- Syndromic X-Linked Intellectual Disability Najm Type
- Syndromic X-Linked Intellectual Disability Nascimento Type
- Syndromic X-Linked Intellectual Disability Raymond Type
- Syndromic X-Linked Intellectual Disability Shashi Type
- Syndromic X-Linked Intellectual Disability Shrimpton Type
- Syndromic X-Linked Intellectual Disability Siderius Type
- Syndromic X-Linked Intellectual Disability Snyder Type
T25
- Tactile Epilepsy
- Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
- TELO2-Related Intellectual Disability-Neurodevelopmental Disorder
- Temple-Baraitser Syndrome
- Temporal Lobe Epilepsy
- TH-Deficient Infantile Parkinsonism And Motor Delay
- THOC6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
- Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
- TMEM63B-Related Developmental And Epileptic Encephalopathy With Anemia
- Torsion Dystonia
- Torsion Dystonia 13
- Torsion Dystonia 17
- Torsion Dystonia 2
- Torsion Dystonia 4
- Torsion Dystonia 6
- Torsion Dystonia 7
- Torsion Dystonia With Onset In Infancy
- Toxic Encephalopathy
- Toxic Optic Neuropathy
- Toxic Or Nutritional Optic Neuropathy
- Tremor-Ataxia-Central Hypomyelination Syndrome
- Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
- Trigeminal Trophic Syndrome
- Tuberculous Encephalopathy
- Tubulinopathy-Associated Dysgyria
U7
V12
- Vanishing White Matter Disease
- Variable Age Epilepsy Syndrome
- Variable-Age Epilepsy Syndrome With Developmental And/or Epileptic Encephalopathy Or Progressive Neurological Deterioration
- Variable-Age Onset Combined Generalized And Focal Epilepsy Syndrome
- Variable-Age Onset Focal Epilepsy Syndrome
- Variable-Age Onset Idiopathic Generalized Epilepsy Syndrome
- Ventriculomegaly-Cystic Kidney Disease
- Visceral Neuropathy, Familial, 1, Autosomal Recessive
- Visceral Neuropathy, Familial, 3, Autosomal Dominant
- Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
- Visual Epilepsy
- Von Voss-Cherstvoy Syndrome
W6
X53
- X-Linked Cerebellar Ataxia
- X-Linked Cerebral Adrenoleukodystrophy
- X-Linked Cerebral-Cerebellar-Coloboma Syndrome Syndrome
- X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome
- X-Linked Complicated Spastic Paraplegia Type 1
- X-Linked Dystonia-Parkinsonism
- X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
- X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss
- X-Linked Intellectual Disability Cabezas Type
- X-Linked Intellectual Disability With Hypopituitarism
- X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
- X-Linked Intellectual Disability With Marfanoid Habitus
- X-Linked Intellectual Disability, Cantagrel Type
- X-Linked Intellectual Disability, Cilliers Type
- X-Linked Intellectual Disability, Golabi-Ito-Hall Type
- X-Linked Intellectual Disability, Pai Type
- X-Linked Intellectual Disability, Porteous Type
- X-Linked Intellectual Disability, Schimke Type
- X-Linked Intellectual Disability, Seemanova Type
- X-Linked Intellectual Disability, Stevenson Type
- X-Linked Intellectual Disability, Stocco Dos Santos Type
- X-Linked Intellectual Disability, Stoll Type
- X-Linked Intellectual Disability, Sutherland-Haan Type
- X-Linked Intellectual Disability, Van Esch Type
- X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
- X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
- X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
- X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
- X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
- X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
- X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
- X-Linked Intellectual Disability-Epilepsy Syndrome
- X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome
- X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
- X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
- X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
- X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
- X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
- X-Linked Intellectual Disability-Plagiocephaly Syndrome
- X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
- X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
- X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
- X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
- X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
- X-Linked Neurodegenerative Syndrome, Bertini Type
- X-Linked Neurodegenerative Syndrome, Hamel Type
- X-Linked Non Progressive Cerebellar Ataxia
- X-Linked Parkinsonism-Spasticity Syndrome
- X-Linked Progressive Cerebellar Ataxia
- X-Linked Sideroblastic Anemia With Ataxia
- X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
- X-Linked Spinocerebellar Ataxia Type 3
- X-Linked Spinocerebellar Ataxia Type 4
Y1
Z1
0–98
- 11p Partial Monosomy Syndrome
- 12q14 Microdeletion Syndrome
- 3-Methylglutaconic Aciduria Type 3
- 3-Methylglutaconic Aciduria Type 9
- 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
- 3p25.3 Microdeletion Syndrome
- 46,XY Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
- 5q14.3 Microdeletion Syndrome