| Monarch Ortholog Phenotypes
|
Human (41 sources):
Abnormal facial shape,
Abnormal vertebral morphology,
Abnormality of mitochondrial metabolism,
Abnormality of the vertebral column,
Agenesis of corpus callosum,
Aminoaciduria,
Aplasia/Hypoplasia of the corpus callosum,
Ataxia,
Cryptorchidism,
Developmental regression,
Dysmetria,
Dystonia,
Encephalopathy,
Epicanthus,
Facial shape deformation,
Failure to thrive,
Feeding difficulties,
Generalized hypotonia,
Global developmental delay,
Head titubation,
Hyperreflexia,
Hypotonia,
Hypsarrhythmia,
Increased circulating lactate concentration,
Infantile spasms,
Irritability,
Leukoencephalopathy,
Metabolic acidosis,
Motor delay,
Myoclonus,
Nystagmus,
Progressive neurologic deterioration,
Respiratory insufficiency,
Seizure,
Sleep disturbance,
Small basal ganglia,
Strabismus,
Tetralogy of Fallot,
Truncal ataxia,
Ventriculomegaly,
Vomiting
[+]
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Mouse (8 sources):
abnormal embryo size,
abnormal forebrain development,
abnormal hindbrain development,
abnormal kidney morphology,
abnormal midbrain development,
embryonic lethality prior to tooth bud stage,
increased exploration in new environment,
preweaning lethality, complete penetrance
|
View all ortholog results at Monarch
|
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.