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Human Disease
hypomyelinating leukodystrophy 25
- Term ID
- DOID:0070401
- Synonyms
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- HLD25
- Definition
- A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. (2)
- References
- Ontology
- Human Disease ( DOID:0070401 )
- is a type of
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