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GENATLAS PHENOTYPE

last update : 23-03-2015

Symbol	OIL1
Location	17q25.3
Name	osteogenesis imperfecta-like disorder
Other name(s)	Cole-Carpenter syndrome
Corresponding gene	P4HB
Main clinical features	ocular proptosis with orbital craniosynostosis, hydrocephalus, and distinctive facial features recurrent diaphyseal fractures of the weight-bearing bones, but intellectual development was unimpaired
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)