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ZIRC
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:
Ontology: Human Disease   (DOID:0060481)
OTHER Goldberg-Shprintzen syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIFBP Goldberg-Shprintzen megacolon syndrome 609460
ZEBRAFISH MODELS
Fish Conditions Citations
kifbpst23/st23 standard conditions Lyons et al., 2008
PHENOTYPE No data available

CITATIONS (1)