ZFIN Human Disease: hypomyelinating leukodystrophy 2

OBO ID: DOID:0060787

Term Name:	hypomyelinating leukodystrophy 2		Search Ontology:
Synonyms:	HLD2 Pelizaeus-Merzbacher-like disease 1 Pelizaeus-Merzbacher-like disease due to GJC2 mutation PMLD1
Definition:	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (2)
References:	ICD10CM:E75.2 OMIM:608804 ORDO:280282
Ontology:	Human Disease ( DOID:0060787 )

Relationships

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

OTHER hypomyelinating leukodystrophy 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GJC2	gjc2	Leukodystrophy, hypomyelinating, 2	608804

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None