has material basis in germline mutation in KIFBP syndromic intellectual disability syndromic disease hereditary disease Goldberg-Shprintzen syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6456 https://github.com/monarch-initiative/mondo/issues/6744 GARD:0009849 OMIM:609460 Orphanet:66629 GOSHS MESH:C537279 megacolon-microcephaly syndrome Goldberg-Shprintzen syndrome This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163) SCTID:717822006 MONDO:0012280 icd11.foundation:1750921468 DOID:0060481 Goldberg-Shprintzen megacolon syndrome A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. UMLS:C1836123 MEDGEN:332131 multiple congenital anomalies/dysmorphic syndrome-intellectual disability intestinal motility disease