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JABL: Deletion of the short arm of chromosome 7 with a phenotype consisting mainly of craniofacial abnormalities (flattened occiput, prominent forehead, craniosynostosis, microcephaly, malformed ears, eye and palpebral anomalies), congenital heart disease, genital malformations, hand abnormalities, and mild to severe mental retardation. The phenotype and severity of symptoms vary in relation to the length of deletion.
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