neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter

Term ID

DOID:0070753

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. https://pubmed.ncbi.nlm.nih.gov/29106825/

References

• MIM:617807
• UMLS_CUI:C4540498

Ontology

Human Disease   ( DOID:0070753 )