| Monarch Ortholog Phenotypes
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Human (25 sources):
Abnormal motor nerve conduction velocity,
Abnormal periventricular white matter morphology,
Absent speech,
Atrophy/Degeneration affecting the brainstem,
Babinski sign,
Cerebellar atrophy,
Decreased nerve conduction velocity,
Delayed speech and language development,
Demyelinating peripheral neuropathy,
Dysarthria,
Dysmetria,
Dystonia,
Failure to thrive,
Feeding difficulties,
Flexion contracture,
Gastrostomy tube feeding in infancy,
Global developmental delay,
Nystagmus,
Progressive spasticity,
Scoliosis,
Secondary microcephaly,
Seizure,
Severe global developmental delay,
Spastic tetraplegia,
Spasticity
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Mouse (12 sources):
abnormal ceramide level,
abnormal hematopoietic system morphology/development,
decreased body length,
decreased body size,
decreased bone mineral content,
decreased lean body mass,
increased circulating alanine transaminase level,
increased circulating alkaline phosphatase level,
increased insulin sensitivity,
increased muscle cell glucose uptake,
[+]
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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.