Term Name: | IMAGe syndrome |
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Synonyms: | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities |
Definition: | A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. |
Ontology: | Human Disease [DOID:0050885] ( DOID:0050885 ) |