| children | - 4H leukodystrophy 1208933000
- Adrenoleukodystrophy 65389002
- Adult onset autosomal dominant leukodystrophy 448054001
- Aicardi Goutieres syndrome 230312006
- Alexander's disease 81854007
- Alkaline ceramidase 3 deficiency 1237515001
- Amyotrophic lateral sclerosis type 4 784341001
- Arrested hydrocephalus 4113009
- Atypical Krabbe disease due to saposin A deficiency 1296731001
- Atypical pantothenate kinase associated neurodegeneration 1186856001
- Auditory neuropathy, optic atrophy syndrome 1222649004
- Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein 1156789004
- Autosomal dominant Alzheimer disease due to mutation of presenilin 1 1156800008
- Autosomal dominant Alzheimer disease due to mutation of presenilin 2 1156798001
- Autosomal dominant late onset basal ganglia degeneration 230313001
- Autosomal dominant late onset Parkinson disease 716662004
- Autosomal dominant striatal neurodegeneration 725392005
- Autosomal recessive cerebral atrophy 776087007
- Autosomal recessive familial Parkinson disease 1156822001
- Autosomal recessive isolated optic atrophy 1197151003
- Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome 784347002
- Behavioral variant of frontotemporal dementia 716994006
- Brain calcification Rajab type 720576001
- C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 1172595004
- CAMOS syndrome 726031001
- Cerebroretinal microangiopathy with calcifications and cysts 711482008
- Childhood-onset basal ganglia degeneration syndrome 1172584005
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1167373005
- CHMP2B-related frontotemporal dementia 702393003
- Cholestanol storage disease 63246000
- Classical pantothenate kinase associated neurodegeneration 1186861004
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
- Combined oxidative phosphorylation defect type 27 1172844009
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome 782757004
- Craniosynostosis and intracranial calcification syndrome 720816004
- Dermatoleukodystrophy 733044009
- Early onset parkinsonism and intellectual disability syndrome 716107009
- Early-onset calcifying leukoencephalopathy, skeletal dysplasia 1222661007
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome 733049004
- Facial onset sensory and motor neuronopathy syndrome 723306004
- Familial Alzheimer-like prion disease 721219005
- Familial Creutzfeldt-Jakob 715807002
- Familial infantile bilateral striatal necrosis 1208478005
- Fatal familial insomnia 83157008
- Fatal post-viral neurodegenerative disorder 774206008
- Ferro-cerebro-cutaneous syndrome 774151000
- Galactosylceramide beta-galactosidase deficiency 192782005
- Gemignani syndrome 782690007
- Gerstmann-Straussler-Scheinker syndrome 67155006
- GRN-related frontotemporal dementia 702426001
- Hereditary cerebellar degeneration 37650008
- Hereditary oculoleptomeningeal amyloid angiopathy 43532007
- Hereditary optic atrophy 26360005
- Hereditary spastic paraplegia 39912006
- Huntington disease-like 1 784371009
- Huntington disease-like 2 721228006
- Huntington disease-like syndrome due to C9ORF72 expansions 782743001
- Huntington's chorea 58756001
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity 777999008
- Hypotonia, speech impairment, severe cognitive delay syndrome 763722004
- Infantile choroidocerebral calcification syndrome 724228005
- Infantile inflammatory bowel disease with neurological involvement 1186721005
- ITM2B-related amyloidosis 1187126002
- Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome 1255271005
- Keratosis follicularis, dwarfism, cerebral atrophy syndrome 723830005
- LAMA5-related multisystemic syndrome 1217370006
- Leigh's disease 29570005
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 703537008
- Leukoencephalopathy with calcifications and cysts 1186710001
- Leukoencephalopathy with metaphyseal chondrodysplasia syndrome 719405005
- Metachromatic leukodystrophy 396338004
- Microphthalmia with brain atrophy syndrome 720010009
- Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome 778021002
- Multiple mitochondrial dysfunctions syndrome type 4 1208621008
- Multiple mitochondrial dysfunctions syndrome type 5 1279890001
- Multiple mitochondrial dysfunctions syndrome type 6 1279891002
- Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome 733028000
- Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001
- NAD(P)HX dehydratase deficiency 1251446004
- NAD(P)HX epimerase deficiency 1251447008
- Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency 722488009
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 1217379007
- Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy 1220598005
- Ocular anomalies, axonal neuropathy, developmental delay syndrome 1172586007
- Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 1222655009
- Pelizaeus Merzbacher like disease 717042001
- Pelizaeus-Merzbacher disease 64855000
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 765325002
- Phytanic acid storage disease 25362006
- Prieto Badia Mulas syndrome 719140001
- Prion protein systemic amyloidosis 733422008
- PRKAR1B-related neurodegenerative dementia with intermediate filaments 774069007
- Progressive cerebellar ataxia with hypogonadism 230240004
- Progressive cone-rod dystrophy 80328002
- Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome 442511009
- Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 770678005
- Progressive myoclonic epilepsy type 3 783064000
- Progressive sclerosing poliodystrophy 20415001
- Progressive sensory ataxia of Charolais 40259002
- Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome 1187043002
- Rambaud Gallian syndrome 724002003
- RARS-related autosomal recessive hypomyelinating leukodystrophy 1220600004
- Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome 1172698005
- RNA polymerase III-related leukodystrophy 712637001
- Severe X-linked intellectual disability Gustavson type 722213009
- Severe X-linked mitochondrial encephalomyopathy 722212004
- Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009
- Spastic paraparesis and deafness 715504003
- Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome 719205008
- Spongy degeneration of central nervous system 80544005
- USP18 deficiency 1251449006
- Vanishing white matter disease 447351004
- VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005
- Wilson's disease 88518009
- Wolfram syndrome 70694009
|
Quick, Current, Complete - www.findacode.com