| Monarch Ortholog Phenotypes
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Human (28 sources):
3-Methylglutaconic aciduria,
Abnormality of the basal ganglia,
Ataxia,
Athetosis,
Cerebral atrophy,
Cognitive impairment,
Coma,
Delayed speech and language development,
Dysarthria,
Dystonia,
Failure to thrive,
Febrile seizure (within the age range of 3 months to 6 years),
Global developmental delay,
Hepatomegaly,
Hyperreflexia,
Hypoglycemia,
Leukoencephalopathy,
Metabolic acidosis,
Microcephaly,
Motor delay,
Optic atrophy,
Progressive cerebellar ataxia,
Psychomotor retardation,
Seizure,
Short attention span,
Spastic tetraparesis,
Spastic tetraplegia,
Urinary incontinence
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Mouse (3 sources):
abnormal sinus arrhythmia,
abnormal sternum morphology,
decreased startle reflex
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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.