Floating-Harbor syndrome (DOID:0111358)
Alliance: disease page
Synonyms: FLHS
Alt IDs: OMIM:136140, MESH:C537062, NCI:C175241, ORDO:2044, UMLS_CUI:C0729582
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.