| Monarch Ortholog Phenotypes
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Human (28 sources):
Axial hypotonia,
Cerebellar hypoplasia,
Cerebral visual impairment,
Cortical dysplasia,
Delayed myelination,
Diaphragmatic eventration,
Encephalopathy,
Exaggerated startle response,
Failure to thrive,
Feeding difficulties,
Global developmental delay,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypoplasia of the pons,
Hypsarrhythmia,
Large hands,
Long foot,
Macrotia,
Microcephaly,
Micrognathia,
Profound global developmental delay,
Progressive microcephaly,
Respiratory insufficiency,
Seizure,
Simplified gyral pattern,
Sloping forehead,
Spastic tetraplegia,
Ventriculomegaly
[+]
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Mouse (9 sources):
abnormal cerebral cortex morphology,
abnormal long term object recognition memory,
abnormal short term object recognition memory,
behavior/neurological phenotype,
decreased brain size,
decreased hemoglobin content,
enlarged lateral ventricles,
increased heart weight,
thin cerebral cortex
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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.