OBO ID: DOID:0060793
Term Name: hypomyelinating leukodystrophy 5 Search Ontology:
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)
OTHER hypomyelinating leukodystrophy 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HYCC1 Leukodystrophy, hypomyelinating, 5 610532
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None