| Monarch Ortholog Phenotypes
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Human (25 sources):
Abnormal electroretinogram,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the optic disc,
Aplasia/Hypoplasia of the cerebellar vermis,
Cataract,
Encephalocele,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
Hypotonia,
Intellectual disability,
Keratoconus,
Nyctalopia,
Nystagmus,
Optic disc pallor,
Optically empty vitreous,
Photophobia,
Reduced visual acuity,
Retinal dots,
Seizure,
Severely reduced visual acuity,
Strabismus,
Visual impairment,
Vitreoretinopathy
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Mouse (13 sources):
abnormal embryo size,
abnormal lung saccule morphology,
abnormal palatal shelf fusion at midline,
absent maxillary shelf,
absent palatine bone horizontal plate,
absent suckling reflex,
decreased birth body size,
decreased fetal size,
neonatal lethality, complete penetrance,
palatal shelves fail to meet at midline,
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.