| Monarch Ortholog Phenotypes
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Human (25 sources):
Abnormal periventricular white matter morphology,
Babinski sign,
Bowel incontinence,
Constipation,
Contractures involving the joints of the feet,
Dysarthria,
Dysphagia,
Gait disturbance,
Global developmental delay,
High palate,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Intellectual disability,
Lower limb muscle weakness,
Optic disc hypoplasia,
Optic nerve hypoplasia,
Periventricular leukomalacia,
Periventricular white matter hyperintensities,
Short stature,
Spastic gait,
Spastic paraplegia,
Strabismus,
Telecanthus,
Tip-toe gait,
Urinary incontinence
[+]
|
|
Mouse (7 sources):
abnormal lipid level,
abnormal long term spatial reference memory,
decreased vertical activity,
impaired balance,
impaired spatial learning,
increased triglyceride level,
short stride length
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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.