Term Name: | Floating-Harbor syndrome |
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Synonyms: | FLHS |
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. |
Ontology: | Human Disease [DOID:0111358] ( DOID:0111358 ) |