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Greig cephalopolysyndactyly syndrome

MIM.175700

Wednesday 2 March 2005

Autosomal dominant disease with variable expressivity

Macrocopical synopsis

- craniofacial anomalies

- abdominal anomalies

- limb anomalies

- cerebral anomalies

Cytogenetics

- 7p13 translocation
- 7p13 deletions

Etiology

- germline mutations of GLI-Kruppel family member GLI3 gene (MIM.165240)