| Monarch Ortholog Phenotypes
|
Human (25 sources):
Abnormal basal ganglia MRI signal intensity,
Abnormal brainstem MRI signal intensity,
Abnormal pyramidal sign,
Abnormal retinal vascular morphology,
Abnormality of extrapyramidal motor function,
Abnormality of the cardiovascular system,
Acrocyanosis,
Ataxia,
Chronic diarrhea,
Cytochrome C oxidase-negative muscle fibers,
Developmental regression,
Diarrhea,
Encephalopathy,
Ethylmalonic aciduria,
Failure to thrive,
Focal T2 hyperintense basal ganglia lesion,
Generalized hypotonia,
Global developmental delay,
Hypotonia,
Intellectual disability,
Lactic acidosis,
Neurodevelopmental delay,
Petechiae,
Retinal vascular tortuosity,
Seizure
[+]
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|
Mouse (6 sources):
abnormal blood homeostasis,
abnormal mineral level,
decreased locomotor activity,
increased circulating lactate level,
premature death,
preweaning lethality, incomplete penetrance
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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.