OBO ID: DOID:0111358 |
Term Name: | Floating-Harbor syndrome | Search Ontology: | |
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Definition: | A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. (3) | ||
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Ontology: | Human Disease ( DOID:0111358 ) |
OTHER Floating-Harbor syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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