Human (81 sources):
Abnormal foot morphology,
Abnormal toenail morphology,
Abnormality of the glabella,
Absent speech,
Agenesis of corpus callosum,
Anterior pituitary hypoplasia,
Aplasia/Hypoplasia of the tibia,
Bifid nasal tip,
Bifid nose,
Brachycephaly,
Broad columella,
Broad nasal tip,
Broad-based gait,
Choroid plexus cyst,
Cleft palate,
Cleft upper lip,
Constipation,
Cryptorchidism,
Delayed ability to walk,
Depressed nasal bridge,
Dermoid cyst,
Downslanted palpebral fissures,
Downturned corners of mouth,
Encephalocele,
Esotropia,
Everted lower lip vermilion,
Failure to thrive,
Feeding difficulties,
Gastroesophageal reflux,
Generalized hypotonia,
Glaucoma,
Global developmental delay,
Gray matter heterotopia,
Happy demeanor,
Hyperactivity,
Hypertelorism,
Hypopituitarism,
Hypoplasia of the corpus callosum,
Hypoplasia of the olfactory bulb,
Hyporeflexia,
Intellectual disability,
Large fontanelles,
Large sella turcica,
Lipoma,
Macrocephaly,
Median cleft palate,
Median cleft upper lip,
Meningocele,
Midline central nervous system lipomas,
Midline defect of the nose,
Myopia,
Onychogryposis,
Open mouth,
Patellar hypoplasia,
Periventricular nodular heterotopia,
Polydactyly,
Preaxial foot polydactyly,
Preaxial polydactyly,
Progressive microcephaly,
Prominent forehead,
Prominent supraorbital ridges,
Ptosis,
Retrocerebellar cyst,
Seizure,
Short nose,
Spasticity,
Strabismus,
Syndactyly,
Talipes equinovarus,
Telecanthus,
Thick eyebrow,
Thick nasal alae,
Tics,
U-Shaped upper lip vermilion,
Unsteady gait,
Upper airway obstruction,
Ventriculomegaly,
Vertical clivus,
Wide mouth,
Wide nasal bridge,
Widely spaced teeth
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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.