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Floating-Harbor syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111358
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
