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GENATLAS PHENOTYPE

last update : 08-02-2014

Symbol	BRWS2
Location	17q25.3
Name	Baraitser-Winter syndrome 2
Corresponding gene	ACTG1
Main clinical features	short stature, postnatal microcephaly; mental retardation, hearing loss, seizures trigonocephaly, hypertelorism, high-arched eyebrows, ptosis, with iris or retinal coloboma and anterior-to-posterior gradient lissencephaly of the pachygyria or pachygyria-band type
Genetic determination	not applicable
Function/system disorder	eye
	ear
	neurology
	mental retardation
Type	disease

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