Human (54 sources):
Abnormal cerebral white matter morphology,
Arachnodactyly,
Astigmatism,
Autistic behavior,
Blepharophimosis,
Broad distal phalanx of finger,
Broad forehead,
Broad nasal tip,
Chronic constipation,
Deeply set eye,
Delayed myelination,
Depressed nasal bridge,
Epicanthus,
Facial grimacing,
Feeding difficulties,
Fine hair,
Frontal bossing,
Generalized non-motor (absence) seizure,
Global developmental delay,
High palate,
Hyperactivity,
Hypermetropia,
Hyperopic astigmatism,
Hypertelorism,
Hypospadias,
Inappropriate laughter,
Incomprehensible speech,
Infantile muscular hypotonia,
Intellectual disability, severe,
Intrauterine growth retardation,
Language impairment,
Long palpebral fissure,
Long toe,
Low frustration tolerance,
Lower limb spasticity,
Micrognathia,
Narrow palpebral fissure,
Neonatal hypotonia,
Obsessive-compulsive trait,
Optic nerve hypoplasia,
Periorbital fullness,
Poor speech,
Self-mutilation,
Short philtrum,
Sleep disturbance,
Sparse hair,
Strabismus,
Thin upper lip vermilion,
Tics,
Upslanted palpebral fissure,
Wide mouth,
Wide nasal bridge,
Widely-spaced maxillary central incisors,
obsolete Joint laxity
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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.