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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
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
cerebellar degeneration +
cerebral amyloid angiopathy +
cerebral lipidosis with dementia +
Chiari malformation type I
Chiari malformation type II
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 +
corticobasal degeneration disorder
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
dilated cardiomyopathy 3B
Duane retraction syndrome +
dyskinesia with orofacial involvement, autosomal dominant
encephalopathy due to mitochondrial and peroxisomal fission defect +
encephalopathy, acute, infection-induced +
epilepsy, familial adult myoclonic +
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
eye degenerative disorder +
familial congenital mirror movements +
familial congenital palsy of trochlear nerve
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial infantile myoclonic epilepsy
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
Genetic neurodegenerative disease +
Gerstmann-Straussler-Scheinker syndrome
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
Griscelli syndrome type 1
hereditary ataxia + A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS. An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.
hereditary cryohydrocytosis with reduced stomatin
hereditary generalized epilepsy +
hereditary hyperekplexia +
hereditary neuromuscular disease +
hereditary retinoblastoma
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
hypermanganesemia with dystonia 2
inborn aminoacylase deficiency +
infantile bilateral striatal necrosis +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
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 dysmorphic facies, seizures, and distal limb anomalies
intellectual developmental disorder with neuropsychiatric features
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
intellectual disability, autosomal dominant +
intellectual disability, autosomal recessive 53
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 cerebellar hypoplasia/agenesis
isolated hereditary congenital facial paralysis
Johanson-Blizzard syndrome
Landau-Kleffner syndrome +
lateral meningocele syndrome
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
leukoencephalopathy, megalencephalic +
linear nevus sebaceous syndrome
lissencephaly spectrum disorders +
macrocephaly/megalencephaly syndrome, autosomal recessive
Marchiafava-Bignami Disease
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
Miscellaneous movement disorder due to genetic neurodegenerative disease +
mismatch repair cancer syndrome 1
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
multiple pterygium-malignant hyperthermia syndrome
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopic macular degeneration
neurocutaneous melanocytosis
Neurodegenerative disease with chorea +
neurohypophyseal diabetes insipidus
nevoid basal cell carcinoma syndrome
noise-induced hearing loss
nonsyndromic genetic hearing loss +
normal pressure hydrocephalus
NPHP3-related Meckel-like syndrome
obsessive-compulsive disorder
occipital pachygyria and polymicrogyria
oculocerebrocutaneous syndrome
olivopontocerebellar atrophy
orofaciodigital syndrome type 6
parkinsonism with polyneuropathy
paroxysmal extreme pain disorder
PAX6-related ocular dysgenesis +
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 +
Primary progressive aphasia +
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive external ophthalmoplegia +
progressive myoclonus epilepsy +
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 parkinsonian syndrome due to genetic neurodegenerative disease +
red-green color blindness
rhabdoid tumor predisposition syndrome 2
Ritscher-Schinzel syndrome +
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
Schinzel-Giedion syndrome
secondary Parkinson disease +
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 +
SPAST-related motor disorder +
spastic quadriplegic cerebral palsy +
specific language impairment +
SYNGAP1-related developmental and epileptic encephalopathy
TH-deficient dopa-responsive dystonia
TUBB3-related tubulinopathy +
typical nemaline myopathy +
undetermined early-onset epileptic encephalopathy +
X-linked immunoneurologic disorder
X-linked intellectual disability +
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