Monarch Ortholog Phenotypes
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Human (36 sources):
Abnormality of extrapyramidal motor function,
Ataxia,
Axial hypotonia,
Babinski sign,
Bradykinesia,
Brisk reflexes,
Constipation,
Decreased CSF homovanillic acid concentration,
Delayed speech and language development,
Excessive salivation,
Feeding difficulties,
Fever,
Focal dystonia,
Gait ataxia,
Generalized dystonia,
Generalized hypotonia,
Intellectual disability, mild,
Irritability,
Lethargy,
Limb dystonia,
Lower limb hyperreflexia,
Mask-like facies,
Motor delay,
Myoclonus,
Night sweats,
obsolete Central hypotonia,
Oculogyric crisis,
Parkinsonism,
Parkinsonism with favorable response to dopaminergic medication,
Pes cavus,
Postural tremor,
Progressive encephalopathy,
Ptosis,
Rigidity,
Talipes equinovarus,
Tremor
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Mouse (30 sources):
abnormal active avoidance behavior,
abnormal adrenaline level,
abnormal associative learning,
abnormal conditioned taste aversion behavior,
abnormal cued conditioning behavior,
abnormal eye electrophysiology,
abnormal fetal cardiomyocyte morphology,
abnormal heart development,
abnormal learning/memory/conditioning,
abnormal noradrenaline level,
anoxia,
blood vessel congestion,
decreased body size,
decreased dopamine level,
decreased noradrenaline level,
dilated heart atrium,
embryonic lethality during organogenesis, incomplete penetrance,
heart vascular congestion,
increased serotonin level,
lethality throughout fetal growth and development, incomplete penetrance,
liver vascular congestion,
neonatal lethality, complete penetrance,
no abnormal phenotype detected,
perinatal lethality, incomplete penetrance,
postnatal lethality, complete penetrance,
prenatal lethality, complete penetrance,
preweaning lethality, complete penetrance,
ventricular hypoplasia,
visceral vascular congestion,
weakness
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View all ortholog results at Monarch
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