| Term Name: | IMAGe syndrome |
|---|---|
| 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 ) |