Disease - Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
- DefinitionAn autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures.
- AcronymACCIID
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Browse 1 entry- Protein phosphatase 3 catalytic subunit alpha · Gene: PPP3CA (CALNA, CNA) · Homo sapiens (Human) · EC:3.1.3.16 · 521 amino acids · Evidence at protein level · Annotation score: 5/5