Monarch Ortholog Phenotypes
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Human (49 sources):
Abnormal circulating citrulline concentration,
Abnormal pyramidal sign,
Abnormality of the coagulation cascade,
Acute encephalopathy,
Acute hepatitis,
Cerebral cortical atrophy,
Chorioretinal atrophy,
Chorioretinal hypopigmentation,
Clonus,
Cognitive impairment,
Coma,
Confusion,
Decreased liver function,
Decreased nerve conduction velocity,
Elevated circulating hepatic transaminase concentration,
Episodic vomiting,
Failure to thrive,
Feeding difficulties,
Generalized hypotonia,
Generalized myoclonic seizure,
Global developmental delay,
Hepatic failure,
Hepatitis,
Hepatomegaly,
Hyperammonemia,
Hyperornithinemia,
Hyperreflexia,
Hypopigmentation of the fundus,
Hypotonia,
Impaired vibratory sensation,
Intellectual disability,
Lethargy,
Morphological abnormality of the pyramidal tract,
Multifocal cerebral white matter abnormalities,
Neurodevelopmental delay,
Oroticaciduria,
Poor coordination,
Progressive cerebellar ataxia,
Protein avoidance,
Psychomotor retardation,
Respiratory alkalosis,
Seizure,
Spastic gait,
Spastic paraparesis,
Spastic paraplegia,
Spasticity,
Specific learning disability,
Speech apraxia,
Tachypnea
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Mouse (4 sources):
abnormal kidney morphology,
abnormal startle reflex,
increased startle reflex,
preweaning lethality, complete penetrance
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View all ortholog results at Monarch
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