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Metadata
ID DOID:0080328
Name Culler-Jones syndrome
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
Xrefs

GARD:13349

OMIM:615849

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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