| Monarch Ortholog Phenotypes
|
Human (31 sources):
Abnormality of eye movement,
Abnormal pyramidal sign,
Ataxia,
Cerebellar atrophy,
Cerebral atrophy,
CNS hypomyelination,
Cognitive impairment,
Dysarthria,
Dystonia,
Generalized hypotonia,
Global developmental delay,
Head titubation,
Hirsutism,
Hyperintensity of cerebral white matter on MRI,
Hyperreflexia,
Hypometric saccades,
Hypoplasia of the corpus callosum,
Intellectual disability,
Leukodystrophy,
Limb ataxia,
Motor delay,
Neonatal hypotonia,
Nystagmus,
obsolete Difficulty walking,
Paroxysmal involuntary eye movements,
Progressive spasticity,
Scoliosis,
Seizure,
Spasticity,
Strabismus,
Truncal ataxia
[+]
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|
Mouse (1 source):
no abnormal phenotype detected
|
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.