| Monarch Ortholog Phenotypes
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Human (55 sources):
Abnormal cerebral artery morphology,
Abnormal corpus striatum morphology,
Abnormal dura mater morphology,
Abnormal internal carotid artery morphology,
Abnormality of fontanelles,
Agenesis of corpus callosum,
Antenatal intracerebral hemorrhage,
Athetosis,
Atrophic pituitary gland,
Blindness,
Cerebellar hypoplasia,
Cerebral cortical atrophy,
Chorioretinal atrophy,
Dilatation of the ventricular cavity,
Dysgenesis of the thalamus,
Failure to thrive,
Generalized myoclonic seizure,
Global developmental delay,
Growth delay,
Hydranencephaly,
Hyperreflexia,
Hypoplasia of the brainstem,
Hypoplastic hippocampus,
Hypotelorism,
Infantile sensorineural hearing impairment,
Intellectual disability, profound,
Intellectual disability, progressive,
Intellectual disability, severe,
Intrauterine growth retardation,
Lethargy,
Lissencephaly,
Macrotia,
Meningitis,
Microcephaly,
Multiple joint contractures,
Opisthotonus,
Optic nerve hypoplasia,
Pachygyria,
Primary microcephaly,
Profound global developmental delay,
Prominent nasal bridge,
Proptosis,
Seizure,
Self-mutilation,
Short stature,
Simplified gyral pattern,
Skeletal muscle atrophy,
Sloping forehead,
Spastic diplegia,
Spastic tetraplegia,
Spasticity,
Stiff neck,
Talipes equinovarus,
Thalamic edema,
Ventriculomegaly
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Mouse (5 sources):
abnormal cerebral cortex morphology,
abnormal neuron differentiation,
decreased brain size,
decreased brain weight,
loss of cortex neurons
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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.