Term Name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
Synonyms: NEDFBA
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.
Ontology: Human Disease [DOID:0070513]   ( DOID:0070513 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder