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

• ICD10CM:G37.8
• OMIM:610532
• ORDO:85163

Ontology

Human Disease   ( DOID:0060793 )