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hypomyelinating leukodystrophy 2
Summary
- Synonym
-
- HLD2
- PMLD1
- Pelizaeus-Merzbacher-like disease 1
- Pelizaeus-Merzbacher-like disease due to GJC2 mutation
- 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.
- Super Class
- autosomal recessive disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0060787
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P42356 | Phosphatidylinositol 4-kinase alpha |
