| Monarch Ortholog Phenotypes
|
Human (30 sources):
Abnormal periventricular white matter morphology,
Abnormal pinna morphology,
Axial hypotonia,
Cerebral cortical atrophy,
Cerebral visual impairment,
Clonus,
Decreased body weight,
Delayed ability to walk,
Delayed gross motor development,
Downslanted palpebral fissures,
Facial hypotonia,
Gait disturbance,
Global developmental delay,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Macroglossia,
Microcephaly,
Midface retrusion,
Narrow forehead,
Optic atrophy,
Peripheral axonal neuropathy,
Progressive microcephaly,
Scissor gait,
Seizure,
Short stature,
Short upper lip,
Skeletal muscle atrophy,
Spastic paraplegia,
Spasticity,
Ventriculomegaly
[+]
|
|
Mouse (7 sources):
abnormal circulating potassium level,
abnormal renal tubule morphology,
immune system phenotype,
increased circulating amylase level,
increased lean body mass,
podocyte foot process effacement,
preweaning lethality, incomplete 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.