" /> Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies - CISMeF





Preferred Label : Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies;

Symbol : IMAGE;

CISMeF acronym : IMAGE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Image syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin-dependent kinase inhibitor 1C gene (CDKN1C, 600856.0007);

Laboratory abnormalities : Hypercalcemia; Hypercalciuria;

Prefixed ID : #614732;

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27/07/2025


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