Human genes for Floating-Harbor syndrome
Floating-Harbor syndrome [DOID:0111358]
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 SRCAP on chromosome 16p11.2.
Synonyms: Floating-Harbor syndrome, DOID:0111358, FloatingHarbor syndrome, Floating-Harbor disease, Floating-Harbor disorder ...