|OBO ID: DOID:0060481|
|Term Name:||Goldberg-Shprintzen syndrome||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0060481)|
|is a type of:||
OTHER Goldberg-Shprintzen syndrome PAGES
PHENOTYPE No data available
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