| Term Name: | hypomyelinating leukodystrophy 26 |
|---|---|
| Synonyms: | HLD26 |
| Definition: | A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. |
| Ontology: | Human Disease [DOID:0070403] ( DOID:0070403 ) |