Search Ontology:
Human Disease

Floating-Harbor syndrome

Term ID
DOID:0111358
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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