Human (58 sources):
2-3 toe syndactyly,
Abnormal pinna morphology,
Absent speech,
Aggressive behavior,
Ataxia,
Attention deficit hyperactivity disorder,
Autistic behavior,
Babinski sign,
Bilateral tonic-clonic seizure,
Broad nasal tip,
Cerebral cortical atrophy,
Clinodactyly of the 2nd toe,
Delayed ability to walk,
Delayed eruption of teeth,
Delayed myelination,
Delayed speech and language development,
Depressed nasal bridge,
Downslanted palpebral fissures,
Drooling,
Facial palsy,
Generalized non-motor (absence) seizure,
Global developmental delay,
High forehead,
High palate,
Hyperactivity,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Intellectual disability,
Intellectual disability, moderate,
Intellectual disability, profound,
Intellectual disability, severe,
Long palpebral fissure,
Long philtrum,
Macrocephaly,
Meckel diverticulum,
Midface retrusion,
Mild neurosensory hearing impairment,
Moderate sensorineural hearing impairment,
Nystagmus,
Obesity,
Optic atrophy,
Periorbital fullness,
Pes planus,
Poor eye contact,
Poor speech,
Pyloric stenosis,
Retrognathia,
Seizure,
Shortening of all distal phalanges of the fingers,
Small for gestational age,
Spasticity,
Strabismus,
Thick lower lip vermilion,
Thin upper lip vermilion,
Tremor,
Urinary incontinence,
Wide nasal bridge,
Widened subarachnoid space
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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.