Human (60 sources):
Abnormal basal ganglia morphology,
Abnormal cerebellum morphology,
Abnormal facial shape,
Abnormal optic nerve morphology,
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-frequency hearing impairment,
High palate,
Hydrocephalus,
Hyperreflexia,
Hypotonia,
Intellectual disability,
Intellectual disability, moderate,
Intellectual disability, profound,
Intellectual disability, severe,
Long face,
Long nose,
Macrocephaly,
Macrotia,
Mandibular prognathia,
Microcephaly,
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,
Thickened calvaria,
Thick vermilion border,
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.