All individuals with variants in gene TNNI2

33 entries on 1 page. Showing entries 1 - 33.
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00154502 129386 - prenatal analysis, fetus has been analyzed with panel "Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.02 - 186 genes" (www.mgz-muenchen.de). Contamination test has been performed ? ? Germany - - - - - arthrogryposis Hypokinesia, fixed fingers, polyhydramnios 1 1 Andreas Laner
00154506 - PubMed: Kimber 2006 3-generation family, 5 affecteds; mother congenital hip dislocation F - Sweden - - - - - DA congenital hip dislocation, inguinal hernia, ulnal deviation fingers, normal CPK level 1 1 Johan den Dunnen
00154507 - PubMed: Kimber 2006 paternal uncle of 16924011-IV.1 M - Sweden - - - - - DA multiple congenital contractures, congenital hip dislocation, ulnal deviation fingers, CPK slightly elevated 1 1 Johan den Dunnen
00154508 - PubMed: Kimber 2006 paternal uncle of 16924011-IV.1 M - Sweden - - - - - DA multiple congenital contractures, congenital hip dislocation, ulnal deviation fingers, CPK slightly elevated 1 1 Johan den Dunnen
00154509 - PubMed: Kimber 2006 father of 16924011-IV.1 M - Sweden - - - - - DA multiple congenital contractures, congenital hip dislocation, inguinal hernia, ulnal deviation fingers, CPK slightly elevated 1 1 Johan den Dunnen
00154510 - PubMed: Kimber 2006 paternal grandfather of 16924011-IV.1 M - Sweden - - - - - DA multiple congenital contractures, ulnal deviation fingers, CPK slightly elevated 1 1 Johan den Dunnen
00154511 - PubMed: Jiang 2004, PubMed: Jiang 2006, PubMed: Jiang 2007 3 generation family, 9 affecteds F no China - - - - - DA severe camptodactyly, overlapping fingers (abnormal digital flexion creases, adducted thumbs), talipes planovalgus with flexed toes, scoliosis 1 9 Johan den Dunnen
00154512 - PubMed: Sung 2003, OMIM:var0001 5-generation family, 22 affecteds - - United States - - - - - DA - 1 22 Johan den Dunnen
00154513 - PubMed: Sung 2003, OMIM:var0001 3 generation family, 3 affecteds, father and 2 children M - United States - - - - - DA - 1 3 Johan den Dunnen
00154514 - PubMed: Sung 2003, OMIM:var0002 3 generation family, 4 affecteds, father and 3 children M - United States - - - - - DA - 1 4 Johan den Dunnen
00154515 - PubMed: Sung 2003, OMIM:var0002 2 generation family, 2 affecteds (brother/sister) - - United States - - - - - DA - 1 2 Johan den Dunnen
00154516 - PubMed: Drera 2006 3 generation family, affected mother/son M - Italy - - - - - DA birth mechanical ventilatory support, hypotonic, asymmetric posture, poor reactivity 1 2 Johan den Dunnen
00154517 - PubMed: Shrimpton 2006 4 generation family, 6 affecteds - no United States - - - - - DA multiple nonprogressive congenital contractures limbs, no primary neurological / muscle disease affecting limb function 1 6 Johan den Dunnen
00154518 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00154519 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00154900 23401156-p3 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154901 23401156-p2 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154902 23401156-p1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154903 23401156-q1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154904 23401156-r1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154905 23401156-s1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154906 23401156-t1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154907 23401156-u1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154908 23401156-v1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00154909 23401156-w1 PubMed: Beck 2013 - - - United States - - - - - DA - 1 1 Johan den Dunnen
00300626 - - - ? - Germany - - - - - ? Fetal akinesia sequence (HP:0001989) 1 1 Andreas Laner
00307199 D16-0481 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis; autosomal dominant inheritance 1 1 Gianina Ravenscroft
00307201 D16-0627 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA antenatal onset; wrist flexion contracture; abnormality ankles; decreased fetal movement (knees/elbows) 1 1 Gianina Ravenscroft
00307236 D18-1716 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis 1 1 Gianina Ravenscroft
00307238 D18-2142 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis 1 1 Gianina Ravenscroft
00307242 D19-0754 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA congenital onset distal arthrogryposis; laryngomalacia; micrognathia 1 1 Gianina Ravenscroft
00307243 D19-0904 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis; hydronephrosis (left); feeding difficulties 1 1 Gianina Ravenscroft
00307245 D19-1111 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA distal arthrogryposis; shoulder flexion contracture; limb joint contracture 1 1 Gianina Ravenscroft
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