Disease #00026

Official abbreviation -
Name arthrogryposis, congenital
OMIM ID -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 2 genes GLE1, TNNT3
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Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00011457 - - 3 pregnancies terminated following 20wk scan showing fetal abnormalities that included multiple pterigia, arthrogryposis, pulmonary hypoplasia ? no United Kingdom (Great Britain) mixed 00y 0 - - arthrogryposis, congenital multiple pterigia, arthrogryposis, pulmonary hypoplasia, hydrops fetalis RYR1 RYR1 2 3 Hana Lango-Allen
00079622 - PubMed: Attali 2009 4-generation family, 4 affecteds - - Palestine - - 0 - - arthrogryposis, congenital myogenic arthrogryposis multiplex congenita (AMC) SYNE1 SYNE1 2 4 Johan den Dunnen
00079628 - - family, 2 affecteds M - Iran - - 0 - - arthrogryposis, congenital autosomal recessive form of myogenic arthrogryposis multiplex congenita (AMC) SYNE1 SYNE1 2 2 Zohreh Fattahi
00095045 - - - - - - - - 0 Yes - arthrogryposis, congenital Arthrogryposis multiplex congenita, hydrops fetalis - RYR1 2 1 Karen Stals
00132791 - - - M no (Australia) - - 0 - - arthrogryposis, congenital - - TNNT3 1 1 Mark Davis
00153391 128748 - sample of a fetus with Arthrogryposis multiplex congenita, mother not yet analysed ? ? Germany - - 0 - - arthrogryposis, congenital Arthrogryposis multiplex congenita MYH8 MYH8 1 1 Andreas Laner
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 - - 0 - - arthrogryposis, congenital Hypokinesia, fixed fingers, polyhydramnios TNNI2 TNNI2 1 1 Andreas Laner
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis, congenital 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) CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 CHRNA1, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, NALCN, RAPSN, UBA1 26 1 Florian Erger
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