Human genes for Goldberg-Shprintzen syndrome
Goldberg-Shprintzen syndrome [DOID:0060481]
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.
Synonyms: Goldberg-Shprintzen syndrome, DOID:0060481, GoldbergShprintzen syndrome, Goldberg-Shprintzen disease, Goldberg-Shprintzen disorder ...