OBO ID: DOID:0081126 |
Term Name: | DeSanto-Shinawi syndrome | Search Ontology: | |
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Definition: | A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. (3) | ||
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Ontology: | Human Disease ( DOID:0081126 ) |
OTHER DeSanto-Shinawi syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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