| Term Name: | hypomyelinating leukodystrophy 25 |
|---|---|
| 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 ) |