DISEASES

Disease-gene associations mined from literature

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 ...