Human (57 sources):
Abnormal facial shape,
Abnormal pyramidal sign,
Absent septum pellucidum,
Arthrogryposis multiplex congenita,
Autistic behavior,
Axial hypotonia,
Cerebral atrophy,
Cerebral visual impairment,
Chorea,
Coarse facial features,
Corpus callosum atrophy,
Cortical dysplasia,
Delayed speech and language development,
Depression,
Diffuse cerebral sclerosis,
Dyskinesia,
Dystonia,
EEG abnormality,
EEG with focal epileptiform discharges,
EEG with generalized epileptiform discharges,
Epileptic spasm,
Failure to thrive,
Focal-onset seizure,
Generalized hypotonia,
Generalized-onset seizure,
Global brain atrophy,
Global developmental delay,
Hyperactivity,
Hypoplasia of the corpus callosum,
Hypotonia,
Hypsarrhythmia,
Impulsivity,
Intellectual disability, mild,
Intellectual disability, moderate,
Intellectual disability, severe,
Kyphoscoliosis,
Large basal ganglia,
Leukodystrophy,
Microcephaly,
Motor delay,
Motor stereotypy,
Multifocal epileptiform discharges,
Nasogastric tube feeding,
Nystagmus,
Polymicrogyria,
Poor speech,
Premature birth,
Progressive flexion contractures,
Projectile vomiting,
Seizure,
Severe global developmental delay,
Short attention span,
Sleep disturbance,
Spastic paraparesis,
Spasticity,
Sudanophilic leukodystrophy,
Visual impairment
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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.