All individuals with variants in gene FREM2

2 entries on 1 page. Showing entries 1 - 2.
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00050471 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? congenital diaphragmatic hernia, pulmonary hypoplasia, malformation of the heart and great vessels, gastroesophageal reflux, patent ductus arteriosus, microcephaly, global developmental delay, downslanted palpebral fissures, wide nasal bridge, cafe-au-lait spot, inverted nipples, abnormality of finger 1 1 Johan den Dunnen
00111704 - - - F - China - - 0 - - cryptophthalmos - 2 2 Qian Yu
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