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

• GARD:6455
• MESH:C537062
• NCI:C175241
• OMIM:136140
• ORDO:2044
• SNOMEDCT_US_2023_03_01:205810007
• UMLS_CUI:C0729582

Ontology

Human Disease   ( DOID:0111358 )