Version: 8.0.0
Date: Tue Jan 28 2025
hypomyelinating leukodystrophy 26
DOID:0070403
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • HLD26
Cross References
Parent Terms
Child Terms
None
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