| Monarch Ortholog Phenotypes
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Human (45 sources):
Abnormal facial shape,
Abnormality of extrapyramidal motor function,
Abnormality of eye movement,
Abnormality of movement,
Abnormal retinal vascular morphology,
Abnormal speech pattern,
Cerebral ischemia,
Choreoathetosis,
Cognitive impairment,
Coma,
Delayed myelination,
Developmental regression,
Dyskinesia,
Dystonia,
Encephalopathy,
Failure to thrive,
Feeding difficulties in infancy,
Gait disturbance,
Generalized hypotonia,
Hemiplegia,
Hepatomegaly,
Hyperketonemia,
Hypoglycemia,
Hypotonia,
Infantile encephalopathy,
Intracranial hemorrhage,
Irritability,
Joint dislocation,
Ketonuria,
Ketosis,
Large fontanelles,
Lateral ventricle dilatation,
Macrocephaly,
Malignant hyperthermia,
Metabolic acidosis,
Migraine,
Opisthotonus,
Prominent forehead,
Rigidity,
Seizure,
Spastic diplegia,
Spasticity,
Symmetrical progressive peripheral demyelination,
Vertigo,
Vomiting
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Mouse (4 sources):
abnormal coat appearance,
abnormal skin coloration,
decreased locomotor activity,
impaired righting response
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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.