Monarch Ortholog Phenotypes
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Human (47 sources):
Abnormal brain lactate level by MRS,
Absent speech,
Acute encephalopathy,
Alternating esotropia,
Ataxia,
Atrophy/Degeneration affecting the brainstem,
Bilateral coxa valga,
Cerebellar atrophy,
Chronic axonal neuropathy,
Clinodactyly of the 3rd toe,
Clinodactyly of the 4th toe,
Depressed nasal bridge,
Developmental regression,
Elevated circulating aspartate aminotransferase concentration,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Elevated serum transaminases during infections,
Encephalopathy,
Epicanthus,
Esotropia,
Failure to thrive,
Failure to thrive in infancy,
Finger clinodactyly,
Food intolerance,
Global developmental delay,
Hypoglycemia,
Hypotonia,
Infantile muscular hypotonia,
Intellectual disability,
Interface hepatitis,
Microcephaly,
Micrognathia,
Myoclonus,
Poor head control,
Poor speech,
Progressive microcephaly,
Prolonged prothrombin time,
Protein-losing enteropathy,
Scoliosis,
Seizure,
Severe global developmental delay,
Skeletal muscle atrophy,
Spontaneous hematomas,
Status epilepticus,
Talipes equinovarus,
Type II transferrin isoform profile,
Ventriculomegaly
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Mouse (1 source):
preweaning lethality, complete penetrance
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View all ortholog results at Monarch
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