| Term Name: | neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities |
|---|---|
| Synonyms: | NEDBES |
| Definition: | An autosomal dominant intellectual developmental disorder characterized by behavioral phenotypes and a variable set of malformations, including brain anomalies, clubfeet, skeletal abnormalities, and facial dysmorphism that has_material_basis_in heterozygous mutation in the FEM1B gene on chromosome 15q23. |
| Ontology: | Human Disease [DOID:0070809] ( DOID:0070809 ) |