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

Disease Ontology Definition:A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.

Synonyms: Goldberg-Shprintzen megacolon syndrome,

Echinobase Genes : kifbp


OMIM:
MIM:609460 - goldberg-shprintzen syndrome; goshs

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

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