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 )

Relationships
is a type of: syndrome