Term Name: | hypomyelinating leukodystrophy 25 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0070401] ( DOID:0070401 ) |