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GENATLAS PHENOTYPE

last update : 19-10-2015

Symbol	CSSS7
Location	2p25.2
Name	Coffin-siris syndrome 7
Other name(s)	mental retardation, autosomal dominant, 27
Corresponding gene	SOX11
Other symbol(s)	MRD27
Main clinical features	dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability hypertrichosis, arched eyebrows, low-set and posteriorly rotated ears, and full cheeks fourth and fifth toes were short, fingers were thin and tapered, and all nails were hypoplastic; skeletal survey showed normal results
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
	osteo-articular
Type	disease

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