Human (62 sources):
Abnormal corpus callosum morphology,
Abnormal involuntary eye movements,
Abnormal myelination,
Abnormality of coordination,
Abnormality of vision,
Absent speech,
Aggressive behavior,
Ataxia,
Attention deficit hyperactivity disorder,
Autism,
Behavioral abnormality,
Brain atrophy,
Cerebral atrophy,
Decreased fetal movement,
Deeply set eye,
Delayed speech and language development,
Depressed nasal bridge,
Developmental regression,
Difficulty walking,
Downslanted palpebral fissures,
Downturned corners of mouth,
Dyskinesia,
EEG with multifocal slow activity,
Encephalopathy,
Epicanthus,
Epileptic encephalopathy,
Everted lower lip vermilion,
Failure to thrive,
Feeding difficulties,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
High forehead,
Hypodontia,
Hyporeflexia,
Hypotonia,
Hypsarrhythmia,
Impulsivity,
Intellectual disability,
Intellectual disability, severe,
Involuntary movements,
Limb hypertonia,
Low-set ears,
Mental deterioration,
Microcephaly,
Myoclonus,
Neonatal hypotonia,
Nystagmus,
Optic atrophy,
Poor head control,
Ptosis,
Reduced tendon reflexes,
Retinal degeneration,
Rigidity,
Secondary microcephaly,
Seizure,
Short stature,
Spasticity,
Status epilepticus,
Tented upper lip vermilion,
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.