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GENATLAS PHENOTYPE

last update : 23-06-2021

Symbol	FLHS
Location	16p11.2
Name	Floating-Harbor syndrome
Corresponding gene	SRCAP
Main clinical features	short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance proportionate short stature, delayed bone age, delayed speech development, and typical facial features, with triangular face, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips, associated with some degree of intellectual or learning disability
Genetic determination	not applicable
Function/system disorder	osteo-articular
Type	disease

Remark(s)

all mutations are tightly clustered within a small (111 codon) region of the final exon, and are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact (PMID: 22265015)) FLHS-associated mutations result in loss of SRCAP nuclear localization, alter neural crest gene programs (PMID: 31491386))