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Human Disease

hypomyelinating leukodystrophy 5

Term ID
DOID:0060793
Synonyms
  • HLD5
  • hypomyelination-congenital cataract syndrome
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. (2)
References
Ontology
Human Disease   ( DOID:0060793 )
Relationships
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Genes Involved
Zebrafish Models