ZFIN Human Disease: hypomyelinating leukodystrophy 3

OBO ID: DOID:0060790

Term Name:	hypomyelinating leukodystrophy 3		Search Ontology:
Synonyms:	HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Definition:	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (2)
References:	ICD10CM:E75.2 OMIM:260600 ORDO:280293
Ontology:	Human Disease ( DOID:0060790 )

Relationships

is a type of:	autosomal recessive disease hypomyelinating leukodystrophy autosomal recessive disease hypomyelinating leukodystrophy Show first 5 Terms

OTHER hypomyelinating leukodystrophy 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AIMP1	aimp1b aimp1a	Leukodystrophy, hypomyelinating, 3	260600

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None