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hypomyelinating leukodystrophy 19
Summary
- Synonym
-
- HLD19
- Definition
- A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42.
- Super Class
- autosomal dominant disease hypomyelinating leukodystrophy
External Links
- Disease Ontology
- DOID:0070400
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O94886 | CSC1-like protein 1 |
