All individuals with variants in gene KLHL40

40 entries on 1 page. Showing entries 1 - 40.
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00079680 - PubMed: Ravenscroft 2013 Family 31 - ? Viet Nam Vietnamese - - - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft
00079681 - PubMed: Ravenscroft 2013 Family 2 - ? Italy Italian - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079682 - PubMed: Ravenscroft 2013 Family 3 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079683 - PubMed: Ravenscroft 2013 Family 5 - ? Israel Israeli - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079684 - PubMed: Ravenscroft 2013 Family 6 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079685 - PubMed: Ravenscroft 2013 Family 7 - ? Norway Norwegian - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079686 - PubMed: Ravenscroft 2013 Family 9 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079687 Family 10 PubMed: Ravenscroft 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? China Chinese - - - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft
00079688 - PubMed: Ravenscroft 2013 Family 34 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft
00079689 - PubMed: Ravenscroft 2013 Family 12 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft
00079690 - PubMed: Ravenscroft 2013 Family 13 - ? Korea Korean - - - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft
00079691 - PubMed: Ravenscroft 2013 Family 14 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079692 - PubMed: Ravenscroft 2013 Family 15 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079693 - PubMed: Ravenscroft 2013 Family 16 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 2 1 Gianina Ravenscroft
00079694 Family 17 PubMed: Ravenscroft 2013 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey Turkish - - - - NEM Familial, autosomal recessive 1 2 Gianina Ravenscroft
00079695 - PubMed: Ravenscroft 2013 Family 18 - ? - Kurdish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079696 - PubMed: Ravenscroft 2013 Family 19 - ? - Kurdish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079697 - PubMed: Ravenscroft 2013 Family 20 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079698 - PubMed: Ravenscroft 2013 Family 21 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079699 - PubMed: Ravenscroft 2013 Family 22 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079700 - PubMed: Ravenscroft 2013 Family 23 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079701 - PubMed: Ravenscroft 2013 Family 24 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079702 - PubMed: Ravenscroft 2013 Family 25 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079703 - PubMed: Ravenscroft 2013 Family 26 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079704 - PubMed: Ravenscroft 2013 Family 27 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079705 - PubMed: Ravenscroft 2013 Family 28 - ? Japan Japanese - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079706 - PubMed: Ravenscroft 2013 Family 29 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079707 - PubMed: Lammens 1997 Family 30 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079708 Fam16 PubMed: Todd 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Australia - - - - - NEM Familial, autosomal recessive 1 1 Gianina Ravenscroft
00079709 - - previous child (now deceased) also affected M - United States white - - - - FADS Familial, autosomal recessive 2 1 Tom Winder
00079710 Fam20 PubMed: Todd 2015 2-generation family, 1 affected, unaffected untested carrier parents M yes - - - - - - NEM8 Familial, autosomal recessive 1 1 Gianina Ravenscroft
00163650 - - Fetus, TOP 24th GW F no Germany - - - 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
00293385 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293386 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307208 D16-1428 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA antenatal onset; arthrogryposis multiplex congenita 1 1 Gianina Ravenscroft
00398961 Fam58Pat64 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - MYOP newborn hypotonia; 2y6m-walk, run; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, no distal weaknessfisrt year gastronomy; 11y-no cardiac involvement 2 1 Johan den Dunnen
00399034 P84 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD - 2 1 Johan den Dunnen
00419199 Fam24Pat29 PubMed: Gurgel-Giannetti 2022 - F - Brazil - - - - - NEM - 2 1 Johan den Dunnen
00419200 Fam25Pat30 PubMed: Gurgel-Giannetti 2022 - F - Brazil - - - - - NEM - 2 1 Johan den Dunnen
00460220 G036-1 PubMed: Mao 2025 patient, no family history F - China - - - - - MDC see paper; ..., premature delivery, severe neonatal asphyxia, suspected neonatal brain injury and tracheal malformation; multiple joint deformity; left humeral fractures 1 1 Johan den Dunnen
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