| Monarch Ortholog Phenotypes
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Human (56 sources):
Abnormal facial shape,
Abnormality of eye movement,
Abnormality of movement,
Acidosis,
Agenesis of corpus callosum,
Anemia,
Anteverted nares,
Apnea,
Apneic episodes precipitated by illness, fatigue, stress,
Basal ganglia cysts,
Cerebral atrophy,
Choreoathetosis,
Chronic lactic acidosis,
Decreased activity of mitochondrial respiratory chain,
Decreased activity of the pyruvate dehydrogenase complex,
Dysarthria,
Dystonia,
Emotional lability,
Episodic ataxia,
Failure to thrive,
Flared nostrils,
Focal T2 hyperintense basal ganglia lesion,
Frontal bossing,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
Hyperalaninemia,
Hyperreflexia,
Hypertrichosis,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Intellectual disability,
Intellectual disability, severe,
Lethargy,
Leukodystrophy,
Long philtrum,
Microcephaly,
Nystagmus,
Ophthalmoplegia,
Optic atrophy,
Peripheral neuropathy,
Pigmentary retinopathy,
Progressive cerebellar ataxia,
Progressive spastic paraplegia,
Psychomotor retardation,
Ptosis,
Seizure,
Severe lactic acidosis,
Small for gestational age,
Spasticity,
Strabismus,
Ventricular septal defect,
Ventriculomegaly,
Wide nasal bridge
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Mouse (28 sources):
abnormal brain white matter morphology,
abnormal cerebellar granule layer morphology,
abnormal cerebellar molecular layer,
abnormal cerebellar peduncle morphology,
abnormal cerebellum deep nucleus morphology,
abnormal cerebral cortex pyramidal cell morphology,
abnormal female meiosis,
abnormal meiotic spindle morphology,
abnormal neocortex morphology,
abnormal olfactory tract morphology,
abnormal oocyte morphology,
abnormal paraventricular thalamic nucleus morphology,
abnormal polar body morphology,
abnormal putamen morphology,
decreased Purkinje cell number,
decreased brain weight,
decreased cardiac muscle contractility,
decreased corpus callosum size,
decreased embryo size,
decreased stria medullaris size,
embryonic growth retardation,
embryonic lethality, complete penetrance,
enlarged myocardial fiber,
increased heart weight,
premature death,
prenatal lethality, complete penetrance,
prenatal lethality, incomplete penetrance,
small cerebellum
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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.