All individuals with variants in gene NLRP2

20 entries on 1 page. Showing entries 1 - 20.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 3 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00452998 patient PubMed: Yalcin 2025 - F no Egypt - - - - - INFF see paper; ..., primary infertility, 4 early miscarriages, 1 failed attempt of intracytoplasmic sperm injection 3 1 Rima Slim
00457387 FamPat1 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F yes China - - - - - INFF see paper; ... 1 1 Johan den Dunnen
00457388 FamPat2 PubMed: Mu 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ... 2 1 Johan den Dunnen
00457389 FamPat3 PubMed: Mu 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ... 2 1 Johan den Dunnen
00457390 FamPat4 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - INFF see paper; ... 2 1 Johan den Dunnen
00457391 FamPat5 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - INFF see paper; ... 2 1 Johan den Dunnen
00457408 Fam1 PubMed: Begemann 2018 mother of 2 affected children (F, M) and 3 pregnancy losses F - Saudi Arabia - - - - - MLID see paper; ... no heath issues; two children affected by MLID, one early abortion (gw 8), two late miscarriages (gw 24 and gw 36), one healthy child 1 3 Johan den Dunnen
00457409 Fam1Pat1 PubMed: Begemann 2018 son M - Saudi Arabia - - - - - MLID see paper; ..., omphalocele, macroglossia, neonatal hypoglycaemia, heart defect, developmental delay 1 1 Johan den Dunnen
00457410 Fam1Pat2 PubMed: Begemann 2018 daughter F yes Saudi Arabia - - - - - MLID see paper; ..., macroglossia, dysmorphisms, prominent eyes, developmental delay 1 1 Johan den Dunnen
00457411 Fam2 PubMed: Begemann 2011, PubMed: Begemann 2018 mother of affected child, in vitro fertilisation (triplet, not monozygotic) F - Germany - - - - - MLID no health issues, affected from a trizygous triplet resulting from intracytoplasmic sperm injection 1 2 Johan den Dunnen
00457412 Pat20;Fam2Pat3 PubMed: Begemann 2011, PubMed: Begemann 2018 son M - Germany - - - - - MLID see paper; ..., Silver-Russell syndrome (NH-CSS: 6/6) 1 1 Johan den Dunnen
00457413 Fam3 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID no health issues; sister experienced three pregnancy losses, no liveborn children 1 2 Johan den Dunnen
00457414 Fam3Pat PubMed: Begemann 2018 son M - - - - - - - MLID amniocentesis (high maternal age) Klinefelter-Syndrome; brith 27w-465 g, OFC 32 cm; postnatal growth restriction, respiratory support 2m, gastric tube feeding first year; microcephaly, precocious puberty, dysmorphism; developmental delay moderate to severe mental retardation, severe speech delay, relatively short stature 1 1 Johan den Dunnen
00457415 Fam4 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID 1 affected/2 unaffected child, at least two miscarriages 1 2 Johan den Dunnen
00457416 Fam4Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., 26w-polyhydramnios; birth 41w weight 2955g (9th centile), OFC 35.5cm; 3m-remission, childhood height and weight >99th centile, autistic spectrum disorder, speech delay, language delay; younger brother anxiety preventing school attendance (autistic spectrum disorder) 1 1 Johan den Dunnen
00457417 Fam5 PubMed: Begemann 2018 mother of affected child F - - - - - - - MLID one subsequent healthy child, one miscarriage 2 2 Johan den Dunnen
00457418 Fam5Pat PubMed: Begemann 2018 son M - - - - - - - MLID see paper; ..., intra-uterine growth retardation; birth weight 1.76kg, OFC 35.5cm, length 43.5cm; Silver Russell syndrome (NH-CSS 4/6); bilateral radial anomalies, abnormalities of thumbs, single kidney 2 1 Johan den Dunnen
00458503 - - - - - - - - - - - OZEMA18 - 1 1 Changlong Zhang
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