Human (56 sources):
Abnormal corpus callosum morphology,
Abnormal involuntary eye movements,
Abnormal myelination,
Abnormality of coordination,
Abnormality of vision,
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 with multifocal slow activity,
Encephalopathy,
Failure to thrive,
Feeding difficulties,
Gastroesophageal reflux,
Generalized hypotonia,
Global developmental delay,
High forehead,
High palate,
Hypodontia,
Hyporeflexia,
Hypsarrhythmia,
Impulsivity,
Intellectual disability,
Involuntary movements,
Limb hypertonia,
Long philtrum,
Mental deterioration,
Microcephaly,
Myoclonus,
Nystagmus,
Open mouth,
Optic atrophy,
Paraparesis,
Poor head control,
Protruding ear,
Ptosis,
Reduced tendon reflexes,
Retinal degeneration,
Rigidity,
Secondary microcephaly,
Seizure,
Short stature,
Spasticity,
Status epilepticus,
Thin upper lip vermilion,
Tremor,
Unsteady gait,
Upslanted palpebral fissure
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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.