Term Name: Floating-Harbor syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome