Human (60 sources):
Abnormal cerebellum morphology,
Abnormal facial shape,
Abnormality of the basal ganglia,
Abnormality of the optic nerve,
Aggressive behavior,
Aplasia/Hypoplasia of the cerebellum,
Autistic behavior,
Cerebral calcification,
Cerebral cortical atrophy,
Choreoathetosis,
Coarse facial features,
Cryptorchidism,
Dandy-Walker malformation,
Deeply set eye,
EEG abnormality,
Feeding difficulties,
Flexion contracture,
Gait ataxia,
Gait disturbance,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
High forehead,
High palate,
High-frequency hearing impairment,
Hydrocephalus,
Hyperreflexia,
Intellectual disability,
Intellectual disability, moderate,
Intellectual disability, profound,
Intellectual disability, severe,
Long face,
Long nose,
Macrocephaly,
Macrotia,
Mandibular prognathia,
Microcephaly,
Muscular hypotonia,
Myopathy,
Open mouth,
Poor speech,
Prominent forehead,
Prominent nose,
Protruding ear,
Scoliosis,
Seizure,
Self-injurious behavior,
Sensorineural hearing impairment,
Short chin,
Short philtrum,
Short stature,
Skeletal muscle atrophy,
Spastic diplegia,
Spasticity,
Strabismus,
Thick vermilion border,
Thickened calvaria,
Triangular face,
Ventriculomegaly,
Wide mouth
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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.