Term Name:	Goldberg-Shprintzen syndrome
Synonyms:	Goldberg-Shprintzen megacolon syndrome
Definition:	A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.
Ontology:	Human Disease [DOID:0060481]   ( DOID:0060481 )