OBO ID: DOID:0111358
Term Name: Floating-Harbor syndrome Search Ontology:
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. (3)
References:
Ontology: Human Disease   ( DOID:0111358 )
OTHER Floating-Harbor syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SRCAP Floating-Harbor syndrome 136140
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None