{"id":27151,"date":"2024-05-26T14:32:41","date_gmt":"2024-05-26T12:32:41","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27151"},"modified":"2025-08-26T12:45:54","modified_gmt":"2025-08-26T10:45:54","slug":"perlman-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/perlman-syndrome\/","title":{"rendered":"Perlman Syndrome"},"content":{"rendered":"

Perlman Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Perlman syndrome (OMIM #267000) is a rare, recessive macrosomia syndrome characterized by hydramnios, renal dysplasia, and characteristic facial dysmorphia.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

Nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

DIS3L2<\/i><\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

DIS3L2<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Role in the degradation of miRNA<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal recessive<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

Extremely rare<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Unknown<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>