Human (58 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,
Behavioral abnormality,
Brain atrophy,
Cerebral atrophy,
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,
Flexion contracture,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
High forehead,
Hypodontia,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Hypsarrhythmia,
Impulsivity,
Inability to walk,
Intellectual disability,
Intellectual disability, profound,
Involuntary movements,
Irritability,
Kyphoscoliosis,
Lethargy,
Limb hypertonia,
Mental deterioration,
Microcephaly,
Myoclonus,
Nystagmus,
Optic atrophy,
Poor head control,
Ptosis,
Reduced tendon reflexes,
Retinal degeneration,
Rigidity,
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.