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2-hydroxyglutaric aciduria +
adult-onset nemaline myopathy
advanced sleep phase syndrome
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ATP1A3-associated neurological disorder +
autosomal recessive non-syndromic intellectual disability +
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
behavioral variant of frontotemporal dementia +
benign familial infantile epilepsy +
benign paroxysmal tonic upgaze of childhood with ataxia
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral striopallidodentate calcinosis +
bilirubin encephalopathy +
biotin-responsive basal ganglia disease
Bosch-Boonstra-Schaaf optic atrophy syndrome
brain-lung-thyroid syndrome
cardiac anomalies - developmental delay - facial dysmorphism syndrome
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
cerebral amyloid angiopathy +
cerebral creatine deficiency syndrome +
cerebral lipidosis with dementia +
Chiari malformation type I
Chiari malformation type II
childhood absence epilepsy
childhood apraxia of speech
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
childhood-onset nemaline myopathy +
chromosome 2p16.3 deletion syndrome
chronic inflammatory demyelinating polyneuropathy
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
coloboma of optic nerve +
combined pituitary hormone deficiencies, genetic form +
complex cortical dysplasia with other brain malformations +
congenital hydrocephalus +
congenital stationary night blindness +
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
dilated cardiomyopathy 3B
Duane retraction syndrome +
dyskinesia with orofacial involvement, autosomal dominant
early myoclonic encephalopathy +
encephalopathy, acute, infection-induced +
epilepsy with myoclonic absences
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
epileptic encephalopathy, infantile or early childhood +
extrapyramidal and movement disease +
familial congenital mirror movements +
familial congenital palsy of trochlear nerve
Familial cortical myoclonus
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial isolated pituitary adenoma +
familial partial epilepsy +
familial periodic paralysis +
familial pterygium of the conjunctiva
familial retinal arterial macroaneurysm
famililal cerebral cavernous malformations +
folinic acid-responsive seizures
frontotemporal dementia with motor neuron disease +
generalized epilepsy with febrile seizures plus +
Gerstmann-Straussler-Scheinker syndrome
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
Griscelli syndrome type 1
hereditary cryohydrocytosis with reduced stomatin
hereditary hyperekplexia +
hereditary neuromuscular disease +
hereditary retinoblastoma
holocarboxylase synthetase deficiency
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
Huntington disease-like 3
Huntington disease-like syndrome due to C9ORF72 expansions
hypermanganesemia with dystonia 2
inborn aminoacylase deficiency +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inherited Creutzfeldt-Jakob disease
inherited neurodegenerative disorder +
inherited orthostatic hypotension +
inherited reflex epilepsy +
inherited retinal dystrophy +
inherited vitreoretinopathy +
intellectual developmental disorder and retinitis pigmentosa
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
intellectual disability, autosomal dominant +
intellectual disability, autosomal recessive 53
intellectual disability-hyperkinetic movement-truncal ataxia syndrome +
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
intellectual disability-severe speech delay-mild dysmorphism syndrome
intellectual disability-sparse hair-brachydactyly syndrome
intracranial berry aneurysm +
isolated hereditary congenital facial paralysis
Johanson-Blizzard syndrome
juvenile absence epilepsy
juvenile myoclonic epilepsy
Landau-Kleffner syndrome +
lateral meningocele syndrome
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
leukoencephalopathy, megalencephalic +
linear nevus sebaceous syndrome
lissencephaly spectrum disorders +
megalencephaly-capillary malformation-polymicrogyria syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +
Mendelian neurodevelopmental disorder +
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
microcephaly-complex motor and sensory axonal neuropathy syndrome
mismatch repair cancer syndrome 1
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
multiple pterygium-malignant hyperthermia syndrome
multiple system atrophy +
myoclonic-astatic epilepsy
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopic macular degeneration
neurocutaneous melanocytosis
neurodegeneration with brain iron accumulation +
neurohypophyseal diabetes insipidus
neuronal intranuclear inclusion disease
nevoid basal cell carcinoma syndrome
noise-induced hearing loss
nonsyndromic genetic hearing loss +
NPHP3-related Meckel-like syndrome
obsessive-compulsive disorder
occipital pachygyria and polymicrogyria
oculocerebrocutaneous syndrome
Opsoclonus-Myoclonus Syndrome
orofaciodigital syndrome type 6
parkinsonism with polyneuropathy
paroxysmal extreme pain disorder
PAX6-related ocular dysgenesis +
periodic limb movement disorder
periventricular nodular heterotopia +
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
phakomatosis pigmentokeratotica
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia +
PPP2R1A-related intellectual disability
Prader-Willi-like syndrome +
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive myoclonus epilepsy +
progressive non-fluent aphasia +
progressive supranuclear palsy +
proximal myopathy with extrapyramidal signs
PRRT2-associated paroxysmal movement disorder +
pyridoxal phosphate-responsive seizures
pyridoxine-dependent epilepsy +
qualitative or quantitative defects of alpha-sarcoglycan +
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +
qualitative or quantitative defects of beta-sarcoglycan +
qualitative or quantitative defects of delta-sarcoglycan +
qualitative or quantitative defects of desmin +
qualitative or quantitative defects of dysferlin +
qualitative or quantitative defects of gamma-sarcoglycan +
qualitative or quantitative defects of perlecan +
qualitative or quantitative defects of plectin +
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +
qualitative or quantitative defects of telethonin +
qualitative or quantitative defects of TRIM32 +
Rare genetic movement disorder +
red-green color blindness
rhabdoid tumor predisposition syndrome 2
Ritscher-Schinzel syndrome +
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
Schinzel-Giedion syndrome
sensorineural hearing loss-early graying-essential tremor syndrome
SERAC1-related neurological disorder +
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +
severe congenital nemaline myopathy +
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
severe neonatal-onset encephalopathy with microcephaly
short stature-brachydactyly-obesity-global developmental delay syndrome
SIN3A-related intellectual disability syndrome
SLC6A3-related dopamine transporter deficiency syndrome + A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.
SPAST-related motor disorder +
spastic quadriplegic cerebral palsy +
specific language impairment +
spinal muscular atrophy-progressive myoclonic epilepsy syndrome
SYNGAP1-related developmental and epileptic encephalopathy
TH-deficient dopa-responsive dystonia
TUBB3-related tubulinopathy +
typical nemaline myopathy +
undetermined early-onset epileptic encephalopathy +
Unverricht-Lundborg syndrome
X-linked immunoneurologic disorder
X-linked intellectual disability +
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