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Symbol
Name
ID
Ccbe1
collagen and calcium binding EGF domains 1
MGI:2445053
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Craniosynostosis
Coronal craniosynostosis
Retrognathia
Malar flattening
Abnormal facial shape
Flat face
Periorbital edema
Broad forehead
Short philtrum
Smooth philtrum
Abnormal oral mucosa morphology
Gingival overgrowth
Narrow palate
Narrow mouth
Abnormal dental morphology
Conical incisor
Irregular dentition
Supernumerary tooth
Tooth agenesis
Oligodontia
Delayed eruption of teeth
Depressed nasal bridge
Wide nasal bridge
Blepharophimosis
Epicanthus
Disease(s) Associated with CCBE1
Hennekam syndrome

Mouse Phenotypes
abnormal craniofacial morphology
Availability Mouse Genotype
Ccbe1em1(IMPC)Mbp/Ccbe1em1(IMPC)Mbp

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory