Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). [mendelian.co]

fullness Multiple rows of eyelashes Decreased muscle mass Ectopia lentis Cortical myoclonus Smooth philtrum Unilateral narrow palpebral fissure Growth delay Talipes equinovarus Pectus excavatum Midface retrusion Dilatation Brachycephaly Proptosis Pes [mendelian.co]

impairment Hyporeflexia Sensorineural hearing impairment Right aortic arch with mirror image branching Sacral meningocele Arteria lusoria Aplasia of the thymus Edema Rheumatoid arthritis Seborrheic dermatitis Acne Velopharyngeal insufficiency Amenorrhea [mendelian.co]

hypotonia Small for gestational age Dolichocephaly Abnormality of the foot Aortic aneurysm Long face Arachnodactyly Joint hypermobility Bruising susceptibility Mitral valve prolapse Blue sclerae Tall stature Mitral regurgitation Joint contracture of [mendelian.co]