Metadata | |
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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 |