| Metadata | |
|---|---|
| ID | DOID:0070403 |
| Name | hypomyelinating leukodystrophy 26 |
| 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. https://pubmed.ncbi.nlm.nih.gov/35325049/ |
| Xrefs | |
| Synonyms |
HLD26 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |