| Monarch Ortholog Phenotypes
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Human (57 sources):
Abnormal electroretinogram,
Abnormal facial shape,
Abnormal vena cava morphology,
Abnormality of pattern visual evoked potentials,
Abnormality of the endocrine system,
Abnormality of the nervous system,
Absent eyebrow,
Absent eyelashes,
Brachydactyly,
Broad columella,
Cafe-au-lait spot,
Cerebral cortical atrophy,
Chiari type I malformation,
Craniosynostosis,
Cryptorchidism,
Delayed ability to walk,
Delayed gross motor development,
Delayed speech and language development,
Downslanted palpebral fissures,
Feeding difficulties,
Frontal bossing,
Global developmental delay,
Hallux valgus,
Heart murmur,
High anterior hairline,
Horseshoe kidney,
Hypoautofluorescent retinal lesion,
Ichthyosis,
Intellectual disability,
Intellectual disability, moderate,
Intrauterine growth retardation,
Low-set ears,
Macrocephaly,
Macrotia,
Metaphyseal chondrodysplasia,
Metaphyseal dysplasia,
Micrognathia,
Neonatal hypotonia,
Nyctalopia,
Peripheral visual field loss,
Pes planus,
Psychomotor retardation,
Renal cyst,
Retinal degeneration,
Rod-cone dystrophy,
Short distal phalanx of finger,
Short metacarpal,
Short stature,
Small nail,
Sparse eyebrow,
Sparse eyelashes,
Sparse hair,
Thick vermilion border,
Underdeveloped nasal alae,
Ventricular septal defect,
Visual field defect,
obsolete Hypotrichosis
[+]
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Mouse (7 sources):
abnormal blood homeostasis,
abnormal retina photoreceptor layer morphology,
decreased a-wave amplitude,
decreased b-wave amplitude,
decreased total retina thickness,
preweaning lethality, incomplete penetrance,
thin retina outer plexiform layer
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View all ortholog results at Monarch
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.