All individuals with variants in gene KLHL40

32 entries on 1 page. Showing entries 1 - 32.
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AscendingIndividual ID     

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00079680 - PubMed: Ravenscroft 2013 Family 31 - ? Viet Nam Vietnamese - 0 - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft & Nigel Laing
00079681 - PubMed: Ravenscroft 2013 Family 2 - ? Italy Italian - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079682 - PubMed: Ravenscroft 2013 Family 3 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079683 - PubMed: Ravenscroft 2013 Family 5 - ? Israel Israeli - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079684 - PubMed: Ravenscroft 2013 Family 6 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079685 - PubMed: Ravenscroft 2013 Family 7 - ? Norway Norwegian - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079686 - PubMed: Ravenscroft 2013 Family 9 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079687 - PubMed: Ravenscroft 2013 Family 10 - ? China Chinese - 0 - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft & Nigel Laing
00079688 - PubMed: Ravenscroft 2013 Family 34 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft & Nigel Laing
00079689 - PubMed: Ravenscroft 2013 Family 12 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft & Nigel Laing
00079690 - PubMed: Ravenscroft 2013 Family 13 - ? Korea Korean - 0 - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft & Nigel Laing
00079691 - PubMed: Ravenscroft 2013 Family 14 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079692 - PubMed: Ravenscroft 2013 Family 15 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079693 - PubMed: Ravenscroft 2013 Family 16 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft & Nigel Laing
00079694 - PubMed: Ravenscroft 2013 Family 17 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079695 - PubMed: Ravenscroft 2013 Family 18 - ? - Kurdish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079696 - PubMed: Ravenscroft 2013 Family 19 - ? - Kurdish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079697 - PubMed: Ravenscroft 2013 Family 20 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079698 - PubMed: Ravenscroft 2013 Family 21 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079699 - PubMed: Ravenscroft 2013 Family 22 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079700 - PubMed: Ravenscroft 2013 Family 23 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079701 - PubMed: Ravenscroft 2013 Family 24 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079702 - PubMed: Ravenscroft 2013 Family 25 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079703 - PubMed: Ravenscroft 2013 Family 26 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079704 - PubMed: Ravenscroft 2013 Family 27 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079705 - PubMed: Ravenscroft 2013 Family 28 - ? Japan Japanese - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079706 - PubMed: Ravenscroft 2013 Family 29 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079707 - PubMed: Lammens 1997 Family 30 - ? Turkey Turkish - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079708 Fam16 PubMed: Todd 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Australia - - 0 - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00079709 - - previous child (now deceased) also affected M - United States Caucasian - 0 - - FADS Familial, autosomal recessive 2 1 Tom Winder
00079710 Fam20 PubMed: Todd 2015 2-generation family, 1 affected, unaffected untested carrier parents M yes ? (unknown) - - 0 - - NEM-8 Familial, autosomal recessive 1 1 Gianina Ravenscroft & Nigel Laing
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 2 1 Florian Erger
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