hypomyelinating leukodystrophy 26

Term ID

DOID:0070403

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. https://pubmed.ncbi.nlm.nih.gov/35325049/

References

• MIM:620269

Ontology

Human Disease   ( DOID:0070403 )