| Term Name: | neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
|---|---|
| Synonyms: | NDAGSCW |
| 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. |
| Ontology: | Human Disease [DOID:0070753] ( DOID:0070753 ) |