Culler-Jones syndrome

Term ID

DOID:0080328

Synonyms

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444

References

• GARD:13349
• MIM:615849

Ontology

Human Disease   ( DOID:0080328 )