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hypomyelinating leukodystrophy 2 (DOID:0060787)
Alliance: disease page
Synonyms: HLD2; Pelizaeus-Merzbacher-like disease 1; Pelizaeus-Merzbacher-like disease due to GJC2 mutation; PMLD1
Alt IDs: OMIM:608804, ICD10CM:E75.2, ORDO:280282
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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/31/2023
MGI 6.22
The Jackson Laboratory