| Term Name: | Damseh-Danson neurodevelopmental disorder |
|---|---|
| Synonyms: | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, ABSENT LANGUAGE, AND BEHAVIORAL ABNORMALITIES |
| Definition: | An autosomal recessive intellectual developmental disability that is characterized by global developmental delay apparent from infancy and that has_material_basis_in homozygous or compound heterozygous mutation in the SNX27 gene on chromosome 1q21. |
| Ontology: | Human Disease [DOID:0051092] ( DOID:0051092 ) |