Monarch Ortholog Phenotypes
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Human (44 sources):
Abnormal electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the optic disc,
Anteverted nares,
Aplasia/Hypoplasia of the cerebellar vermis,
Atypical scarring of skin,
Blindness,
Bull's eye maculopathy,
Cataract,
Conductive hearing impairment,
Constriction of peripheral visual field,
Encephalocele,
Glaucoma,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Hypotonia,
Intellectual disability,
Keratoconus,
Macular degeneration,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Photophobia,
Progressive night blindness,
Retinitis pigmentosa inversa,
Rod-cone dystrophy,
Seizure,
Sensorineural hearing impairment,
Severely reduced visual acuity,
Type II diabetes mellitus,
Visual impairment,
Visual loss,
Wide nasal bridge
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Mouse (12 sources):
abnormal cone electrophysiology,
abnormal fasting circulating glucose level,
abnormal photoreceptor connecting cilium morphology,
abnormal retina cone cell morphology,
abnormal retina rod cell morphology,
abnormal rod electrophysiology,
decreased fasting circulating glucose level,
retina cone cell degeneration,
retina photoreceptor degeneration,
retina rod cell degeneration,
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View all ortholog results at Monarch
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