| Monarch Ortholog Phenotypes
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Human (29 sources):
3-Methylglutaconic aciduria,
Abnormality of extrapyramidal motor function,
Abnormality of the coagulation cascade,
Absent speech,
Aplasia/Hypoplasia involving the central nervous system,
Brain atrophy,
Cerebellar atrophy,
Developmental regression,
Dystonia,
Encephalopathy,
Failure to thrive,
Feeding difficulties,
Generalized hypotonia,
Global developmental delay,
Hyperammonemia,
Hypoglycemia,
Hypotonia,
Inability to walk,
Increased circulating lactate concentration,
Intellectual disability,
Lactic acidosis,
Microcephaly,
Neonatal sepsis,
Optic atrophy,
Psychomotor retardation,
Recurrent infections,
Seizure,
Sensorineural hearing impairment,
Spasticity
[+]
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Mouse (8 sources):
abnormal exploration in a new environment,
abnormal freezing behavior,
abnormal locomotor activation,
decreased exploration in new environment,
decreased lean body mass,
decreased locomotor activity,
decreased vertical activity,
enlarged lymph nodes
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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.