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GENATLAS PHENOTYPE

last update : 26-01-2010

Symbol	ALSD
Location	16p13.3
Name	acid-labile subunit deficiency
Corresponding gene	IGFALS
Main clinical features	delay of growth and pubertal development, with marked reduction in circulating levels of both IGFI and IGFBP3, and with modest growth response to GH treatment low serum levels of IGF1 and IGFBP3 that remain abnormally low upon growth hormone stimulation and postnatal growth clearly affected, but with only a mild impact on postnatal growth (Domene 2009)
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

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