| Monarch Ortholog Phenotypes
|
Human (28 sources):
3-Methylglutaconic aciduria,
Abnormal cerebral white matter morphology,
Absent speech,
Aggressive behavior,
Cerebral atrophy,
Clonus,
Decreased activity of mitochondrial ATP synthase complex,
Delayed ability to walk,
Delayed gross motor development,
Diffuse white matter abnormalities,
EEG abnormality,
Encephalopathy,
Failure to thrive,
Generalized hypotonia,
Global developmental delay,
Hyperreflexia,
Hypotonia,
Hypsarrhythmia,
Increased circulating lactate concentration,
Intellectual disability, severe,
Muscle weakness,
Neurological speech impairment,
Optic atrophy,
Seizure,
Slender build,
Spasticity,
Status epilepticus,
Urinary incontinence
[+]
|
|
Mouse (6 sources):
abnormal retina outer nuclear layer morphology,
decreased bone mineral content,
embryonic lethality prior to tooth bud stage,
increased lean body mass,
increased response of heart to induced stress,
preweaning lethality, complete penetrance
|
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.