c2cd3 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (160)

Interactants (18)

XB-GENEPAGE-5904943

Gene Symbol: c2cd3 Gene Name: C2 calcium-dependent domain containing 3

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (45 sources): Abnormal facial shape, Abnormality of the pinna, Absent speech, Anteriorly placed anus, Aplasia of the epiglottis, Atrial septal defect, Bifid tongue, Cerebellar hypoplasia, Cleft lip, Cleft palate, Cryptorchidism, Dandy-Walker malformation, Epispadias, Generalized hypotonia, Global developmental delay, Hamartoma of tongue, Holoprosencephaly, Hypoplasia of the corpus callosum, Intellectual disability, Intellectual disability, severe, Lobulated tongue, Low-set ears, Microcephaly, Micrognathia, Micropenis, Microretrognathia, Molar tooth sign on MRI, Natal tooth, Occipital encephalocele, Optic disc coloboma, Patent ductus arteriosus, Periventricular heterotopia, Polymicrogyria, Postaxial polydactyly, Posteriorly rotated ears, Preaxial polydactyly, Retinal coloboma, Retinitis, Short ribs, Simplified gyral pattern, Supernumerary tooth, Telecanthus, Trigonocephaly, Upslanted palpebral fissure, Ventricular septal defect [+]
Mouse (14 sources): abnormal cranial flexure morphology, abnormal direction of heart looping, abnormal dorsal-ventral axis patterning, abnormal embryo size, abnormal floor plate morphology, abnormal grip strength, abnormal left-right axis patterning, abnormal rostral-caudal body axis extension, absent embryonic cilia, decreased grip strength, embryonic lethality during organogenesis, complete penetrance, embryonic lethality prior to tooth bud stage, pericardial edema, preweaning lethality, complete penetrance [+]
View all ortholog results at Monarch