| Monarch Ortholog Phenotypes
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Human (29 sources):
Abnormal CNS myelination,
Astigmatism,
Axial hypotonia,
Cerebral atrophy,
Deeply set eye,
Delayed gross motor development,
Delayed myelination,
Delayed speech and language development,
Dilation of lateral ventricles,
Esophoria,
Esotropia,
Full cheeks,
Global developmental delay,
Hypermetropia,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Intellectual disability,
Limb hypertonia,
Nystagmus,
Obesity,
Partial agenesis of the corpus callosum,
Plagiocephaly,
Polyhydramnios,
Progressive spastic paraplegia,
Prominent forehead,
Reduced visual acuity,
Spastic paraplegia,
Strabismus,
Ventriculomegaly
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Mouse (15 sources):
abnormal CNS synaptic transmission,
abnormal axon morphology,
abnormal brain vasculature morphology,
abnormal dendrite morphology,
abnormal dendritic spine morphology,
abnormal neuron differentiation,
decreased brain size,
decreased fetal size,
decreased motor neuron number,
dilated heart atrium,
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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.