" /> Insulin-like growth factor I deficiency - CISMeF





Preferred Label : Insulin-like growth factor I deficiency;

Symbol : IGF1D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Igf1 deficiency; Growth retardation with sensorineural deafness and mental retardation;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the insulin-like growth factor-1 gene (IGF1, 147440.0001);

Laboratory abnormalities : Increased serum growth hormone; Decreased serum insulin-like growth factor-1 (IGF1);

Prefixed ID : #608747;

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29/07/2025


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