Human (55 sources):
Abnormal bleeding,
Abnormal cardiovascular system morphology,
Abnormal dermatoglyphics,
Abnormal hair quantity,
Abnormal platelet function,
Abnormal pulmonary valve morphology,
Abnormality of coagulation,
Abnormality of the genital system,
Abnormality of the lymphatic system,
Abnormality of the spleen,
Aplasia of the semicircular canal,
Aplasia/Hypoplasia of the abdominal wall musculature,
Arrhythmia,
Brachydactyly,
Clinodactyly of the 5th finger,
Coarse hair,
Cryptorchidism,
Cystic hygroma,
Delayed skeletal maturation,
Downslanted palpebral fissures,
Dysarthria,
Enlarged thorax,
Feeding difficulties in infancy,
Hepatomegaly,
High forehead,
High palate,
Hypertelorism,
Hypogonadotropic hypogonadism,
Hypotonia,
Low posterior hairline,
Low-set, posteriorly rotated ears,
Lymphedema,
Melanocytic nevus,
Micrognathia,
Midface retrusion,
Muscle weakness,
Neurological speech impairment,
Nystagmus,
Pectus carinatum,
Pectus excavatum,
Proptosis,
Ptosis,
Pulmonary artery stenosis,
Radioulnar synostosis,
Scoliosis,
Sensorineural hearing impairment,
Short stature,
Strabismus,
Thick lower lip vermilion,
Thickened helices,
Thickened nuchal skin fold,
Triangular face,
Webbed neck,
Wide intermamillary distance,
obsolete Joint hyperflexibility
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.