cep57 Phenotypes

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Phenotypes

Gene Literature (4)

Nucleotides (93)

Interactants (71)

XB-GENEPAGE-987030

Gene Symbol: cep57 Gene Name: centrosomal protein 57kDa

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (83 sources): Abnormal aortic morphology, Abnormal cardiovascular system morphology, Abnormal lung lobation, Abnormal skull morphology, Abnormality of immune system physiology, Abnormality of skin pigmentation, Abnormality of the orbital region, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormality of vision, Acute lymphoblastic leukemia, Ambiguous genitalia, Aortic regurgitation, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Apnea, Ascites, Atrial septal defect, Blepharophimosis, Cafe-au-lait spot, Cataract, Cleft palate, Clinodactyly, Clinodactyly of the 5th finger, Coarctation of aorta, Colon cancer, Corneal opacity, Dandy-Walker malformation, Decreased response to growth hormone stimulation test, Deeply set eye, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Dolichocephaly, Downslanted palpebral fissures, Duodenal atresia, Epicanthus, Epidermoid cyst, Frontal bossing, Generalized hypotonia, Glaucoma, Global developmental delay, Growth delay, Hearing impairment, High forehead, Holoprosencephaly, Hypothyroidism, Hypotonia, Increased nuchal translucency, Intellectual disability, Intellectual disability, mild, Intestinal polyposis, Intrauterine growth retardation, Long face, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Microphthalmia, Multicystic kidney dysplasia, Multiple cafe-au-lait spots, Muscular dystrophy, Myelodysplasia, Neoplasm, Nephroblastoma, Osteolysis, Polyhydramnios, Rhabdomyosarcoma, Seizure, Short nose, Short palpebral fissure, Short stature, Sleep apnea, Sloping forehead, Small for gestational age, Stomach cancer, Subvalvular aortic stenosis, Temporal bossing, Triangular face, Vaginal neoplasm, Ventricular septal defect, Ventriculomegaly, Wide nose [+]
Mouse (13 sources): abnormal cell morphology, abnormal mitotic spindle morphology, abnormal vertebral body development, abnormal vertebral column morphology, aneuploidy, curly tail, embryonic lethality, incomplete penetrance, increased incidence of tumors by chemical induction, increased lung adenoma incidence, increased tumor incidence, lethality throughout fetal growth and development, complete penetrance, neonatal lethality, complete penetrance, short tail [+]
View all ortholog results at Monarch