Search Ontology:
Human Disease

Goldberg-Shprintzen syndrome

Term ID
DOID:0060481
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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