hypomyelinating leukodystrophy 26 Disease Ontology Browser

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hypomyelinating leukodystrophy 26 (DOID:0070403)
Alliance: disease page
Synonyms: HLD26
Alt IDs: OMIM:620269
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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