| Monarch Ortholog Phenotypes
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Human (27 sources):
Abnormality of eye movement,
Brachycephaly,
Brachydactyly,
Broad forehead,
Chiari malformation,
Coronal craniosynostosis,
Facial asymmetry,
Frontal bossing,
Global developmental delay,
Hearing impairment,
Hypertelorism,
Increased intracranial pressure,
Intellectual disability,
Intellectual disability, moderate,
Intellectual disability, severe,
Lambdoidal craniosynostosis,
Macrocephaly,
Metacarpal synostosis,
Midface retrusion,
Oxycephaly,
Papilledema,
Plagiocephaly,
Proptosis,
Sagittal craniosynostosis,
Strabismus,
Underdeveloped supraorbital ridges,
Visual field defect
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Mouse (12 sources):
abnormal cerebellar foliation,
abnormal cerebellum development,
abnormal cerebellum vermis morphology,
abnormal suckling behavior,
decreased locomotor activity,
impaired limb coordination,
impaired righting response,
neonatal lethality, incomplete penetrance,
postnatal lethality, complete penetrance,
postnatal lethality, incomplete penetrance,
[+]
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View all ortholog results at Monarch
|
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.