ZFIN Human Disease: Goldberg-Shprintzen syndrome

OBO ID: DOID:0060481

Term Name:	Goldberg-Shprintzen syndrome		Search Ontology:
Synonyms:	Goldberg-Shprintzen megacolon syndrome
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. (3)
References:	GARD:9849 MESH:C537279 OMIM:609460 ORDO:66629 SNOMEDCT_US_2023_03_01:717822006 UMLS_CUI:C1836123
Ontology:	Human Disease ( DOID:0060481 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Goldberg-Shprintzen syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
KIF1BP	kifbp	Goldberg-Shprintzen megacolon syndrome	609460

ZEBRAFISH MODELS

Fish	Conditions	Citations
kifbp^st23/st23	standard conditions	Lyons et al., 2008

PHENOTYPE No data available

CITATIONS (1)