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Metadata
ID DOID:0060793
Name hypomyelinating leukodystrophy 5
Definition A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
https://www.ncbi.nlm.nih.gov/pubmed/16951682, https://www.ncbi.nlm.nih.gov/pubmed/17683097
Xrefs

ICD10CM:G37.8

OMIM:610532

ORDO:85163

Subsets

DO_rare_slim

Synonyms

HLD5 [EXACT]

hypomyelination-congenital cataract syndrome [EXACT]

Parent Relationships

is_a hypomyelinating leukodystrophy

is_a autosomal recessive disease

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