Specific

Alport syndrome; hereditary nephropathy aminoacylase-1 deficiency amyotrophic lateral sclerosis type 17 amyotrophic lateral sclerosis type 2; juvenile amyotrophic lateral sclerosis Angelman syndrome (happy puppet syndrome) ataxia-oculomotor apraxia syndrome; ataxia-telangiectasia-like syndrome; cerebellar ataxia early-onset with apraxia & hypoalbuminemia (EOCA-HA, AOA1) bilateral frontoparietal polymicrogyria bilateral striatal necrosis brain small vessel disease with hemorrhage (BSVDH) Brown-Marie syndrome Brunner syndrome CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts & leukoencephalopathy) central diabetes insipidus; diabetes insipidus, neurohypophyseal type (CDI) cerebellar ataxia, Cayman-type cerebral cavernous malformation cerebral palsy congenital stenosis of aqueduct of Sylvius or X-linked hydrocephalus cortical dysplasia-focal epilepsy syndrome (CDFE syndrome) disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) dystonia-12 (rapid-onset dystonia parkinsonism) epilepsy female-restricted with mental retardation (convulsive disorder & mental retardation) episodic ataxia Fahr's disease; striopallidodentate calcinosis; idiopathic basal ganglia calcification familial Alzheimer's disease (FAD) familial amyotrophic lateral sclerosis (ALS) familial British dementia (cerebral amyloid angiopathy ITM2B-related type 1, CAA-ITM2B1) familial Danish dementia (cerebral amyloid angiopathy ITM2B-related type 2, CAA-ITM2B2, heredopathia ophthalmo-oto-encephalica) familial dysautonomia; Riley-Day syndrome; hereditary sensory & autonomic neuropathy III familial encephalopathy with neuroserpin inclusion bodies familial febrile seizures familial hemiplegic migraine familial horizontal gaze palsy with progressive scoliosis (HGPPS) familial isolated vitamin E deficiency (ataxia, Friedreich-like, with selective vitamin E deficiency) familial neurodegenerative disease familial Parkinson's disease familial progressive subcortical gliosis; familial dementia, Neumann type fatal familial insomnia focal cortical dysplasia of Taylor balloon cell type (FCDBC) frontotemporal dementia 3 (FTD3, chromosome 3-linked FTD) frontotemporal dementia with parkinsonism (FTDP-17); multiple system tauopathy with presenile dementia (MSTD) generalized epilepsy with febrile seizures (GEFS) Gerstmann-Straussler-Scheinker disease giant axonal neuropathy hemiplegia alterans (alternating hemiplegia) hereditary hyperekplexia (Kok disease, startle disease, stiff baby syndrome) hereditary spastic paraplegia (familial spastic paralysis) holoprosencephaly Huntington disease like 1 hydrocephalus due to stenosis of the aqueduct of Sylvius hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, & pallidal degeneration (HARP) syndrome Icelandic-type cerebral amyloid angiopathy infantile-onset ascending spastic paralysis Joubert syndrome leukodystrophy leukodystrophy hypomyelinating type-4; mitochondrial HSP60 chaperonopathy; mitCHAP-60 disease leukoencephalopathy with brainstem & spinal cord involvement & lactate elevation (LBSL) leukoencephalopathy, diffuse hereditary, with spheroids mental retardation, nonsyndromic Moyamoya disease myoclonic encephalopathy myoclonus epilepsy of Unverricht-Lundborg (EPM1) neurodegeneration with brain iron accumulation neuroferritinopathy; neurodegeneration with brain iron accumulation 3; basal ganglia disease, adult onset Norrie disease oculoleptomeningeal type amyloidosis (amyloidosis VII) olivopontocerebellar atrophy (OPCA) or degeneration (OPCD); multiple system atrophy, cerebellar subtype pallidopontonigral degeneration periventricular nodular heterotopia (nodular brain heteropia) polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), presenile dementia with bone cysts; Nasu-Hakola disease pontocerebellar hypoplasia type 1; pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia with anterior horn cell disease pontocerebellar hypoplasia type 2 pontocerebellar hypoplasia type 6; fatal infantile encephalopathy with mitochondrial respiratory chain defects primary juvenile lateral sclerosis progressive lower motor neuron disease (PLMND) Rett syndrome sensory ataxic neuropathy, dysarthria & ophthalmoparesis (SANDO) spastic ataxia of Charlevoix-Saguenay spinal muscular atrophy (SMA) spinocerebellar ataxia (SCA) subcortical band heterotopia