Monarch Ortholog Phenotypes
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Human (46 sources):
Absent speech,
Acute rhabdomyolysis,
Ataxia,
Cardiac arrest,
Cerebral atrophy,
Clonus,
Drooling,
Dysarthria,
Dystonia,
Elevated circulating acylcarnitine concentration,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Gait ataxia,
Gait disturbance,
Generalized hypotonia,
Global developmental delay,
Hyperactive deep tendon reflexes,
Hyperammonemia,
Hypertrophic cardiomyopathy,
Hypoglycemia,
Hypothyroidism,
Increased circulating lactate concentration,
Intellectual disability,
Ischemic stroke,
Ketonuria,
Lactic acidosis,
Metabolic acidosis,
Microcephaly,
Muscle weakness,
Myoglobinuria,
Myopathic facies,
Neurodegeneration,
Optic atrophy,
Oral-pharyngeal dysphagia,
Poor coordination,
Premature pubarche,
Premature thelarche,
Prolonged QTc interval,
Rhabdomyolysis,
Seizure,
Sensorineural hearing impairment,
Spastic diplegia,
Spastic tetraplegia,
Torsade de pointes,
Ventricular fibrillation,
Ventricular tachycardia
[+]
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Mouse (2 sources):
decreased startle reflex,
increased exploration in new environment
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View all ortholog results at Monarch
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