Disease - Cole-Carpenter syndrome 2
- DefinitionA form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive.
- AcronymCLCRP2
- Keywords
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Browse 1 entry- Protein transport protein Sec24D · Gene: SEC24D (KIAA0755) · Homo sapiens (Human) · 1032 amino acids · Evidence at protein level · Annotation score: 5/5