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Summary Literature (0)
DOID:0060481 - Goldberg-Shprintzen syndrome

Disease Ontology 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.

Synonyms: Goldberg-Shprintzen megacolon syndrome

Xenbase Genes : kifbp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012280 - Goldberg-Shprintzen syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)