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  2. Insulin-like growth factor I deficiency

Insulin-like growth factor I deficiency

Definition:

Insulin-like growth factor I (IGF1) deficiency due to mutations in IGF1 gene is an autosomal recessive disorder, characterized by severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. Patients have the extremely low IGF1 circulating levels, and respond to treatment with IGF1.

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