| Monarch Ortholog Phenotypes
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Human (25 sources):
Abnormal cerebellum morphology,
Abnormal pyramidal sign,
Axial hypotonia,
Babinski sign,
Cerebral hypomyelination,
Cerebral white matter atrophy,
Decreased motor nerve conduction velocity,
Developmental cataract,
Dysarthria,
Global developmental delay,
Hyperreflexia,
Inability to walk,
Intellectual disability,
Intellectual disability, moderate,
Intention tremor,
Leukodystrophy,
Loss of ability to walk,
Lower limb amyotrophy,
Lower limb muscle weakness,
Motor delay,
Onion bulb formation,
Polyneuropathy,
Scoliosis,
Seizure,
Truncal titubation
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Mouse (11 sources):
abnormal circulating potassium level,
abnormal inspiratory capacity,
abnormal red blood cell distribution width,
behavior/neurological phenotype,
decreased circulating alanine transaminase level,
enlarged thymus,
increased fasting circulating glucose level,
increased mean corpuscular hemoglobin,
increased red blood cell distribution width,
no abnormal phenotype detected,
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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.