DO_rare_slim has material basis in autosomal dominant disease Culler-Jones syndrome DOID:0080328 disease_ontology MIM:615849 GARD:13349 A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. syndrome autosomal dominant inheritance