Human (62 sources):
Abnormal corpus callosum morphology,
Abnormal involuntary eye movements,
Abnormal myelination,
Abnormality of coordination,
Abnormality of vision,
Absent speech,
Ataxia,
Attention deficit hyperactivity disorder,
Autism,
Axial hypotonia,
Behavioral abnormality,
Brain atrophy,
Cerebellar atrophy,
Cerebral atrophy,
Cerebral visual impairment,
Chronic constipation,
Decreased fetal movement,
Delayed speech and language development,
Developmental regression,
Difficulty walking,
Downslanted palpebral fissures,
Dyskinesia,
EEG abnormality,
EEG with multifocal slow activity,
Encephalopathy,
Epileptic encephalopathy,
Failure to thrive,
Feeding difficulties,
Gait disturbance,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
High forehead,
Hypodontia,
Hyporeflexia,
Hypsarrhythmia,
Impulsivity,
Inability to walk,
Intellectual disability,
Involuntary movements,
Limb ataxia,
Limb hypertonia,
Mental deterioration,
Microcephaly,
Multifocal epileptiform discharges,
Myoclonus,
Nystagmus,
Optic atrophy,
Optic disc pallor,
Poor head control,
Poor speech,
Ptosis,
Reduced tendon reflexes,
Retinal degeneration,
Rigidity,
Secondary microcephaly,
Seizure,
Short stature,
Spasticity,
Status epilepticus,
Tremor,
Unsteady gait
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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.