polr1a Phenotypes

Phenotypes

XB-GENEPAGE-1005159

Gene Symbol: polr1a Gene Name: polymerase (RNA) I polypeptide A

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (46 sources): 2-3 toe syndactyly, Abnormal cardiac septum morphology, Abnormal palate morphology, Abnormality of metabolism/homeostasis, Abnormality of the orbital region, Abnormality of vision, Acetabular dysplasia, Anotia, Atrial septal defect, Bifid uvula, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Blepharophimosis, Choanal atresia, Cleft palate, Cleft upper lip, Conductive hearing impairment, Decreased body weight, Downslanted palpebral fissures, Feeding difficulties in infancy, Femoral bowing, Hypertelorism, Hypomimic face, Hypoplasia of the maxilla, Lower eyelid coloboma, Macrotia, Mandibular prognathia, Microcephaly, Micrognathia, Microtia, Midface retrusion, Narrow mouth, Patent ductus arteriosus, Preauricular skin tag, Prominent nasal bridge, Protruding ear, Renal hypoplasia, Retrognathia, Short nose, Short palpebral fissure, Short philtrum, Short stature, Thin vermilion border, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge [+]
Mouse (9 sources): abnormal embryo size, abnormal heart left ventricle size, embryonic lethality before implantation, complete penetrance, embryonic lethality prior to organogenesis, failure of blastocyst formation, failure of zygotic cell division, increased cell death, preweaning lethality, complete penetrance, thin ventricular wall
View all ortholog results at Monarch