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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

MIM:620269

Synonyms

HLD26 [EXACT]

Parent Relationships

is_a hypomyelinating leukodystrophy

is_a autosomal recessive disease

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