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skos:definition |
JABL: Deletion of the long arm of chromosome 9. It is a rare chromosomal aberration with a variable phenotype. Common manifestations include hypotonia, growth and mental retardation, and down-slanting or oblique palpebral fissures. Additional anomalies may include arhinencephaly, malformed ears, atrial or ventricular septal defects, and lung hypoplasia.
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