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GENATLAS PHENOTYPE

last update : 11-01-2021

Symbol	IDDMSF
Location	17p13.1
Name	intellectual developmental disorder with macrocephaly, speech delay and dysmorphic facies
Other name(s)	Snijders Blok-Campeau syndrome
Corresponding gene	CHD3
Other symbol(s)	SNIBCPS
Main clinical features	global developmental delay with impaired intellectual development and delayed speech acquisition, expressive language deficits, with speech apraxia and dysarthria. . with macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

Remark(s)

. de novo missense variants observed in affected subjects with Snijders Blok-Campeau syndrome were observed within the helicase domains of the protein (PMID: 33352116))