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GENATLAS PHENOTYPE

last update : 23-04-2009

Symbol	OPTB4
Location	16p13.3
Name	osteopetrosis, Albers-Schonberg disease 4
Corresponding gene	CLCN7
Main clinical features	macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)