All individuals with variants in gene MDFIC

10 entries on 1 page. Showing entries 1 - 10.
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00405733 LE-452Pat1 PubMed: Leppanen 2020 2-generation family, 2 affected brothers, unaffected non-carrier parents M no China - <0d - - - ? died at birth (26w); fetal 19w hydrops; no polyhydramnios; chylothorax; bilateral pleural effusions; pericardial effusions; ascites; subcutaneous lymphedema; no hydrocele; pulmonary hypoplasia; pectus excavatum; no cardiac anomalies; no ptosis; no hyperkeratosis; no inguinal hernia 2 2 Audrey Debue
00405734 LE-452Pat2 PubMed: Leppanen 2020 brother M no China - - - - - ? fetal from 20w hydrops; no polyhydramnios; chylothorax; bilateral pleural effusions; no pericardial effusions; ascites; subcutaneous lymphedema; no hydrocele; respiratory support required after birth; pectus excavatum developed during infancy; no cardiac anomalies; no ptosis; not known; no hyperkeratosis; bilateral inguinal hernia; no infections 2 1 Audrey Debue
00405735 LE-410 PubMed: Leppanen 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - ? no hydrops; unilateral, recurrent pleural effusions; lymphedema both legs, around eyes; respiratory problems, left lower lobe collapse; mitral valve prolapse, tachycardia; bilateral pleural thickening; hyperkeratosis; papillomatosis on toes 1 1 Audrey Debue
00405736 LE-590 PubMed: Leppanen 2020 2-generation family, 1 affected M yes - Arab 7y - - - ? died at 7y; fetal 22w hydrops; polyhydramnios; chylothorax; bilateral, recurrent pleural effusions; pericardial effusions; moderate ascites; lymphedema both legs, subcutaneous; bilateral hydrocele; respiratory support required after birth; 1y-cardiac arrest; ; inguinal hernia; recurrent unexplained fever, frequent upper and lower respiratory tract infections, died from septic shock (S.pyogenes sepsis) 1 1 Audrey Debue
00405737 CHOP-1 PubMed: Leppanen 2020 2-generation family, 2 affected brothers, unaffected non-carrier parents M no - Europe - - - - ? fetal 20w hydrops; polyhydramnios; chylothorax; bilateral pleural effusions; no pericardial effusions; ascites; subcutaneous lymphedema; hydrocele; respiratory support required after birth; pectus excavatum; tiny patent foramen ovale; no ptosis; no pleural thickening; no hyperkeratosis; no inguinal hernia 1 2 Audrey Debue
00405738 LE-230 PubMed: Leppanen 2020 2-generation family, 1 affected, unaffected non-carrier parents M yes - Arab - - - - ? brith hydrops; chylothorax; bilateral pleural effusions; generalized lymphedema; hydrocele; ptosis 1 1 Audrey Debue
00405739 G764 PubMed: Leppanen 2020 2-generation family, 1 affected, unaffected non-carrier parents F yes - Kurdish - - - - ? no hydrops; no polyhydramnios; chylothorax; uni/bilateral, recurrent pleural effusions; no pericardial effusions; minimal ascites; lymphedema both legs, eyelids; respiratory support required after birth; pectus excavatum; muscular ventricular septal defect; no hyperkeratosis; no inguinal hernia; no infections 1 1 Audrey Debue
00405810 Pat1a PubMed: Lu 2022, Journal: Lu 2022 4-generation family, 4 affected (4M), monozygotis twins, unaffected heterozygous carrier parents/relatives M no - - - - - - NDD see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; hypothyroidism, Addison’s disease 1 4 Johan den Dunnen
00405811 Pat1b PubMed: Lu 2022, Journal: Lu 2022 monozygotic twin Pat1a M no - - - - - - NDD see paper; ..., developmental delay; intellectual disability; delayed speech; autism; attention deficit disorder, attention deficit hyperactivity disorder; seizures; impulsive, obsessive behavior; hypothyroidism 1 1 Johan den Dunnen
00405814 Pat4 PubMed: Lu 2022, Journal: Lu 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no - - - - - - NDD see paper; ..., developmental delay; severe intellectual disability; severe delayed speech; severe seizures; MRI brain hypothalamic hamartoma 1 1 Johan den Dunnen
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