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skos:definition |
JABL: Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities. Deletions limited to proximal bands (q13-q31) are marked mainly by growth retardation but no major deformities, those involving band 32q are usually associated with numerous major malformations, and distal deletions are usually complicated by severe mental retardation with comparatively minor abnormalities. Garcia-Lurie syndrome and this disorder share many common clinical features.,NCI: A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and pshychomotor retardation.
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