Human (56 sources):
Abnormal corpus callosum morphology,
Abnormal involuntary eye movements,
Abnormality of coordination,
Abnormality of vision,
Abnormal myelination,
Absent speech,
Ataxia,
Attention deficit hyperactivity disorder,
Atypical behavior,
Autism,
Brain atrophy,
Cerebral atrophy,
Cerebral visual impairment,
Decreased fetal movement,
Delayed speech and language development,
Developmental regression,
Downslanted palpebral fissures,
Dyskinesia,
Dystonia,
EEG abnormality,
EEG with multifocal slow activity,
Encephalopathy,
Epileptic encephalopathy,
Failure to thrive,
Feeding difficulties,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
High forehead,
Hypodontia,
Hyporeflexia,
Hypsarrhythmia,
Impulsivity,
Inability to walk,
Intellectual disability,
Involuntary movements,
Lethargy,
Limb hypertonia,
Mental deterioration,
Microcephaly,
Myoclonus,
Nystagmus,
obsolete Difficulty walking,
Optic atrophy,
Poor head control,
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.