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GENATLAS PHENOTYPE

last update : 16-06-2021

Symbol	DHBPA
Location	16p11.2
Name	developmental delay, hypotonia, behavioral and psychiatric anomalies
Corresponding gene	SRCAP
Main clinical features	normal or tall stature, but do not have brachydactyly, broad thumbs, or fingertips facial dysmorphy with long face and long philtrum, prominent forehead, and thin vermilion upper lip with everted lower vermilion and wide mouth
Genetic determination
Function/system disorder
Type	disease

Remark(s)

. SRCAP truncating variants proximal to the FLHS locus result in a neurodevelopmental disorder with clinical features distinct from FLHS (PMID: 33909990))