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GENATLAS PHENOTYPE

last update : 12-05-2017

Symbol	HMMS
Location	16q12.2
Name	Hamamy syndrome
Corresponding gene	IRX5
Main clinical features	hypertelorism with midface prominence, myopia, mental retardation, and bone fragility brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures, also ear, dental and lacrimal anomalies
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

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