| Monarch Ortholog Phenotypes
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Human (46 sources):
Abnormal circulating homocysteine concentration,
Abnormal circulating methionine concentration,
Abnormal facial shape,
Abnormality of coagulation,
Abnormality of hair texture,
Abnormality of the dentition,
Abnormality of the liver,
Behavioral abnormality,
CNS hypomyelination,
Cardiomyopathy,
Cerebellar hypoplasia,
Delayed myelination,
Developmental regression,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Elevated coagulation factor V activity,
Esotropia,
Failure to thrive,
Global developmental delay,
Growth delay,
Hepatocellular carcinoma,
Hydrops fetalis,
Hyperhomocystinemia,
Hyperintensity of cerebral white matter on MRI,
Hypermethioninemia,
Hypoalbuminemia,
Hypofibrinogenemia,
Hypoplasia of the corpus callosum,
Hypoplasia of the pons,
Infantile muscular hypotonia,
Intellectual disability,
Microcephaly,
Motor delay,
Muscle weakness,
Muscular dystrophy,
Pes planus,
Poor head control,
Prolonged prothrombin time,
Reduced antithrombin III activity,
Reduced factor VII activity,
Respiratory insufficiency,
Sensorimotor neuropathy,
Short attention span,
Strabismus,
Ventriculomegaly,
Widened subarachnoid space
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Mouse (5 sources):
decreased startle reflex,
embryonic lethality prior to organogenesis,
embryonic lethality prior to tooth bud stage,
increased grip strength,
preweaning lethality, complete penetrance
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View all ortholog results at Monarch
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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.