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fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; fetal akinesia sequence; arthrogryposis multiplex congenita with pulmonary hypoplasia
Epidemiology: rare
Genetics:
- associated with defects in RAPSN
Clinical manifestations:
- decreased intrauterine fetal movement
- congenital limb contractures
- pulmonary hypoplasia
- polyhydramnios
- craniofacial abnormalities
General
genetic syndrome (multisystem disorder)
References
UniProt :accession Q13702