| Monarch Ortholog Phenotypes
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Human (23 sources):
Abnormal cerebral white matter morphology,
Cataract,
Cerebellar hypoplasia,
Generalized hypotonia,
Gray matter heterotopia,
Hearing impairment,
Hematochezia,
Hydrocephalus,
Hypoplasia of the brainstem,
Hypotonia,
Intellectual disability,
Leukoencephalopathy,
Lissencephaly,
Macrocephaly,
Occipital encephalocele,
Optic atrophy,
Porencephalic cyst,
Psychomotor retardation,
Seizure,
Severe global developmental delay,
Spastic paraplegia,
Subcortical band heterotopia,
Type II lissencephaly
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Mouse (14 sources):
abnormal extraembryonic tissue morphology,
abnormal limb posture,
abnormal motor capabilities/coordination/movement,
abnormal mural trophectoderm morphology,
abnormal parietal endoderm morphology,
abnormal postural reflex,
abnormal single cell response,
behavior/neurological phenotype,
embryonic lethality between implantation and somite formation, complete penetrance,
failure to gastrulate,
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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.