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GENATLAS PHENOTYPE

last update : 18/07/2006

Symbol	CRD1
Location	1q32.2
Name	cortisone reductase deficiency1
Corresponding gene	HSD11B1
Main clinical features	oligomenorrhea, hirsutism, and acne, triallelic digenic pattern of inheritance overweight with central fat distribution; plasma cortisol normal, but adrenal glands were enlarged on CT scan
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

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