Term Name: | hypomyelinating leukodystrophy 26 |
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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 ) |