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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder