impdh1 Phenotypes

Phenotypes

XB-GENEPAGE-957447

Gene Symbol: impdh1 Gene Name: IMP (inosine 5'-monophosphate) dehydrogenase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (46 sources): Abnormal electroretinogram, Abnormal optic disc morphology, Abnormal retinal vascular morphology, Abnormal testis morphology, Abnormality of fundus pigmentation, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Anteverted nares, Aplasia/Hypoplasia of the cerebellar vermis, Atypical scarring of skin, Blindness, Bone spicule pigmentation of the retina, Cataract, Conductive hearing impairment, Constriction of peripheral visual field, Encephalocele, Geographic atrophy, Glaucoma, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hyperinsulinemia, Hyperreflexia, Hypogonadism, Hypoplasia of penis, Hypotonia, Intellectual disability, Keratoconus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Optic disc pallor, Photophobia, Posterior subcapsular cataract, Progressive night blindness, Reduced visual acuity, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Severely reduced visual acuity, Type II diabetes mellitus, Undetectable light- and dark-adapted electroretinogram, Visual impairment, Wide nasal bridge [+]
Mouse (5 sources): abnormal retina inner limiting membrane morphology, abnormal retina outer limiting membrane morphology, decreased T cell proliferation, decreased total retina thickness, thin retina outer nuclear layer
View all ortholog results at Monarch