| Metadata | |
|---|---|
| ID | DOID:0070753 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070753 Copy |
| Name | neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter |
| 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. https://pubmed.ncbi.nlm.nih.gov/29106825/ |
| Xrefs | |
| SKOS |
exactMatch MIM:617807 exactMatch UMLS_CUI:C4540498 |
| Subsets |
DO_rare_slim |
| Synonyms |
NDAGSCW [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |