Leukodystrophy
Symptom Information:
Symptom ID: | HPO:0002415 | ||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
MedDRA: Nervous system disorders(MedDRA:10029205) Demyelinating disorders(MedDRA:10012303) Leukodystrophy(HPO:0002415) Congenital, familial and genetic disorders(MedDRA:10010331) Metabolic and nutritional disorders congenital(MedDRA:10027424) Lysosomal storage disorders(MedDRA:10024579) Leukodystrophy(HPO:0002415) |
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Database Frequency: | 30 / 7739 | ||||||
Resource: |
All diseases associated with this symptom:
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY | (OMIM:616034) |
AICARDI-GOUTIERES SYNDROME 4 | (OMIM:610333) |
AICARDI-GOUTIERES SYNDROME 5 | (OMIM:612952) |
AICARDI-GOUTIERES SYNDROME 6 | (OMIM:615010) |
Adult-onset autosomal dominant leukodystrophy | (Orphanet:99027) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Coats plus syndrome | (Orphanet:313838) |
DERMATOLEUKODYSTROPHY | (OMIM:221790) |
Gamma-aminobutyric acid transaminase deficiency | (Orphanet:2066) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypomyelination - congenital cataract | (Orphanet:85163) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/ORHYPOGONADOTROPIC HYPOGONADISM | (OMIM:614381) |
LEUKODYSTROPHY, HYPOMYELINATING, 9 | (OMIM:616140) |
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS | (OMIM:614561) |
Leigh syndrome with leukodystrophy | (Orphanet:255241) |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | (Orphanet:137639) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Odontoleukodystrophy | (Orphanet:77295) |
PEROXISOME BIOGENESIS DISORDER 1B | (OMIM:601539) |
Pelizaeus-Merzbacher-like disease | (Orphanet:280270) |
Pelizaeus-Merzbacher-like due to GJC2 mutation | (Orphanet:280282) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Waardenburg-Shah syndrome | (Orphanet:897) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |