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,
Floppy infant,
Frontal bossing,
Generalized non-motor (absence) seizure,
Global developmental delay,
High palate,
Hyperactivity,
Hypermetropia,
Hyperopic astigmatism,
Hypertelorism,
Hypospadias,
Inappropriate laughter,
Incomprehensible speech,
Intellectual disability, severe,
Intrauterine growth retardation,
Language impairment,
Long palpebral fissure,
Long toe,
Lower limb spasticity,
Low frustration tolerance,
Micrognathia,
Narrow palpebral fissure,
Neonatal hypotonia,
Obsessive-compulsive trait,
obsolete Joint laxity,
Optic nerve hypoplasia,
Periorbital fullness,
Poor speech,
Self-mutilation,
Short philtrum,
Sleep abnormality,
Sparse hair,
Strabismus,
Thin upper lip vermilion,
Tics,
Upslanted palpebral fissure,
Widely-spaced maxillary central incisors,
Wide mouth,
Wide nasal bridge
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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.