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neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (DOID:0070753)
Alliance: disease page
Synonyms: NDAGSCW
Alt IDs: OMIM:617807, UMLS_CUI:C4540498
Definition: An autosomal dominant intellectual developmental disorder characterized by severely delayed psychomotor development apparent from infancy including delayed and difficulty walking, intellectual disability, and absent speech; decreased cortical white matter often with other brain anomalies; and variable additional features including hip dysplasia, tapering fingers, and seizures that has_material_basis_in heterozygous mutation in the RAB11B gene on chromosome 19p13.

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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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06/09/2026
MGI 6.24 		The Jackson Laboratory