Disease #00385 (DA (arthrogryposis, distal (DA)))

Official abbreviation DA
Name arthrogryposis, distal (DA)
OMIM ID -
Inheritance -
Individuals reported having this disease 155
Phenotype entries for this disease 156
Associated with 1 gene MYLPF
Associated tissues -
Disease features -
Remarks -
Date created 2014-05-27 12:44:13 +02:00 (CEST)
Date last edited 2015-12-08 23:59:30 +01:00 (CET)


Individuals

155 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00079635 - PubMed: Baumann 2017, Journal: Baumann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Austria Turkey - - - - DA see paper; ... - SYNE1 1 1 Andreas Janecke
00132810 09199560-FamS PubMed: Maslen 1997 6-generation family, 18 affecteds (9F, 9M) F;M no Switzerland - - - - - DA congenital contractural arachnodactyly FBN2 FBN2 1 18 Johan den Dunnen
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 TNNI2 TNNI2 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 TNNI2 TNNI2 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 TNNI2 TNNI2 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 TNNI2 TNNI2 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 TNNI2 TNNI2 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 TNNI2 TNNI2 1 9 Johan den Dunnen
00154512 - PubMed: Sung 2003, OMIM:var0001 5-generation family, 22 affecteds - - United States - - - - - DA - TNNI2 TNNI2 1 22 Johan den Dunnen
00154513 - PubMed: Sung 2003, OMIM:var0001 3 generation family, 3 affecteds, father and 2 children M - United States - - - - - DA - TNNI2 TNNI2 1 3 Johan den Dunnen
00154514 - PubMed: Sung 2003, OMIM:var0002 3 generation family, 4 affecteds, father and 3 children M - United States - - - - - DA - TNNI2 TNNI2 1 4 Johan den Dunnen
00154515 - PubMed: Sung 2003, OMIM:var0002 2 generation family, 2 affecteds (brother/sister) - - United States - - - - - DA - TNNI2 TNNI2 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 TNNI2 TNNI2 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 TNNI2 TNNI2 1 6 Johan den Dunnen
00154875 - PubMed: Gurnett 2009 variant not present in unaffected relatives F - United States - - - - - DA childhood onset, bilateral severe equinovarus contractures, no facial contractures/scoliosis TNNT3 TNNT3 1 1 Johan den Dunnen
00154876 - PubMed: Sung 2003, OMIM:var0001 daugther of 12865991-I.1 F - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154877 - PubMed: Sung 2003, OMIM:var0001 daugther of 12865991-I.1 F - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154878 - PubMed: Sung 2003, OMIM:var0001 mother of 12865991-II.1/.2 F - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154879 - - - F - Canada French Canadian - - - - DA - TNNT3 TNNT3 1 1 Tom Winder
00154880 - PubMed: Zhao 2011 3-generation family, 5 affecteds - - China - - - - - DA - TNNT3 TNNT3 1 5 Johan den Dunnen
00154881 23401156-a1 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154882 16642020-g1 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154883 21531865-1 PubMed: Alvarado 2011 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154884 18695058-a1 PubMed: Tajsharghi 2008 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154885 23401156-b1 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154886 23401156-d1 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154887 16642020-b1 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154888 16642020-c1 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154889 23401156-i1 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 2 Johan den Dunnen
00154890 16642020-d1 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154891 16642020-a2 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154892 16642020-e1 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154893 16642020-f1 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154894 23401156-x2 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154895 23401156-x1 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154896 18695058-b1 PubMed: Tajsharghi 2008 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154897 23401156-z1 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154898 23401156-aa1 PubMed: Beck 2013 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154899 16642020-a1 PubMed: Toydemir 2006 - - - United States - - - - - DA - MYH3 MYH3 1 1 Johan den Dunnen
00154900 23401156-p3 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154901 23401156-p2 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154902 23401156-p1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154903 23401156-q1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154904 23401156-r1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154905 23401156-s1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154906 23401156-t1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154907 23401156-u1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154908 23401156-v1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154909 23401156-w1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNI2 TNNI2 1 1 Johan den Dunnen
00154910 23401156-e1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154911 23401156-f2 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154912 23401156-f1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154913 23401156-g2 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154914 23401156-h2 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154915 23401156-h3 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154916 23401156-h4 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154917 23401156-g1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154918 23401156-h1 PubMed: Beck 2013 - - - United States - - - - - DA - TNNT3 TNNT3 1 1 Johan den Dunnen
00154919 23401156-c1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154920 23401156-j1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154921 23401156-k1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154922 23401156-l1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154923 23401156-m1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154924 23401156-m2 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154925 23401156-m3 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154926 23401156-m4 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154927 23401156-m5 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154928 23401156-n1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154929 23401156-o1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154930 23401156-y1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00154931 23401156-ab1 PubMed: Beck 2013 - - - United States - - - - - DA - TPM2 TPM2 1 1 Johan den Dunnen
00213502 - PubMed: Sung 2003 4 generation family, 14 affecteds - - - - - - - - DA - TPM2 TPM2 1 14 Johan den Dunnen
00213503 17339586.II2 PubMed: Tajsharghi 2007, PubMed: Ochala 2007 mother of 17339586.III1 F - Sweden - >65y - - - DA distal joint contractures at birth, progressive muscle weakness proximal and distal muscles TPM2 TPM2 1 1 Johan den Dunnen
00213504 17339586.III1 PubMed: Tajsharghi 2007, PubMed: Ochala 2007 daugther of 17339586.II2 F - Sweden - >28y - - - DA distal joint contractures at birth, muscle weakness proximal and distal muscles TPM2 TPM2 1 1 Johan den Dunnen
00213514 - - - - - United States - - - - - DA - TPM2 TPM2 3 1 Tom Winder
00213515 - - - - - United States - - - - - DA - TPM2 TPM2 1 1 Tom Winder
00213535 - - - M - United States Hispanic - - - - DA distal contractures, rocker-bottom feet TPM2 TPM2 1 1 Tom Winder
00213536 Fam19 - - F - - - - - - - DA distal arthrogryposis with congenital contractures of ankles, fingers, and thumbs, tethered spinal cord, vertebral segmentation anomaly, dysmorphic facial features; 13m unable raise arms above shoulder TPM2 TPM2 1 1 Minttu Marttila
00213537 Fam 20 - - F - - - - - - - DA hypotonia, joint contractures, and bilateral club foot (at birth); ; cannot walk without support TPM2 TPM2 1 1 Minttu Marttila
00213544 - - - M - United States - - - - - DA contractures of lower joints TPM2 TPM2 1 1 Tom Winder
00307011 FamAPatVI1 PubMed: Chong 2020 7-generation family, affected brother/sister M yes Poland - - - - - DA weight <1%ile, height 1.15ile; small mouth (HP:0000160); cleft lip & palate (HP:0410030, HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239); undescended testicles (HP:0000028) MYLPF MYLPF 1 1 Johan den Dunnen
00307012 FamAPatVI2 PubMed: Chong 2020 sister F yes Poland - - - - - DA weight 8%ile; small mouth (HP:0000160); cleft lip & palate (HP:0410030, HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239) MYLPF MYLPF 1 1 Johan den Dunnen
00307013 FamBPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents M yes India - - - - - DA weight 8.8%ile, height <1%ile; small mouth (HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); camptodactyly, toes (HP:0001836); contractures of wrists (HP:0001239); undescended testicles (HP:0000028) MYLPF MYLPF 1 1 Johan den Dunnen
00307014 FamCPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - DA weight <1%ile, height <1%ile; no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239) MYLPF MYLPF 1 1 Johan den Dunnen
00307015 FamDPatIV2 PubMed: Chong 2020 4-generation family, 1 affected, unaffected parents F yes Pakistan - - - - - DA short stature (HP:0004322);; ; no knee contractures (-HP:0006380); no camptodactyly, fingers (-HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239) MYLPF MYLPF 1 1 Johan den Dunnen
00307016 FamEPatII1 PubMed: Chong 2020 2-generation family, 1 affected, unaffected parents M yes Pakistan - - - - - DA analysis at birth (37w+2); weight 3–10%ile (1,820 g); no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); no limited neck rotation (-HP:0005986); scoliosis (HP:0002650); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); no undescended testicles (-HP:0000028); short neck (HP:0000470) MYLPF MYLPF 1 1 Johan den Dunnen
00307017 FamFPatIV8 PubMed: Chong 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents - yes India - - - - - DA analysis 12w gestation (antenatal ultrasound); no small mouth (-HP:0000160); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650);; equinovarus (HP:0001762); ; increased nuchal translucency MYLPF MYLPF 1 1 Johan den Dunnen
00307018 FamFPatIV10 PubMed: Chong 2020 sister F yes India - - - - - DA analysis 19w gestation (perinatal autopsy); weight 50%ile (249 g), height 48%ile (22 cm); small mouth (HP:0000160), retrognathia (HP:0000278); thin vermilion (HP:0000233), bifid uvula (HP:0000193); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); no undescended testicles (-HP:0000028); short neck (HP:0000470) MYLPF MYLPF 1 1 Johan den Dunnen
00307019 FamFPatIII2 PubMed: Chong 2020 fetus F yes India - - - - - DA no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no equinovarus (-HP:0001762); ; contractures of wrists (HP:0001239) MYLPF MYLPF 1 1 Johan den Dunnen
00307020 FamFPatIII3 PubMed: Chong 2020 fetus F yes India - - - - - DA no small mouth (-HP:0000160); thin vermilion (HP:0000233); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); equinovarus (HP:0001762); ; contractures of wrists (HP:0001239) MYLPF MYLPF 1 1 Johan den Dunnen
00307021 FamGPatII1 PubMed: Chong 2020 3-generation family, affected father/son, unaffacted non-carrier grandparents M - - Jewish-Ashkenazi - - - - DA see paper; ..., camptodactyly, fingers (HP:0100490); contractures of wrists (HP:0001239) MYLPF MYLPF 1 2 Johan den Dunnen
00307022 FamGPatIII1 PubMed: Chong 2020 son M - - Jewish-Ashkenazi - - - - DA see paper; ..., weight <3rd %ile; small mouth (HP:0000160), limited opening (HP:0000211); high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); camptodactyly, toes (HP:0001836); no contractures of wrists (-HP:0001239); undescended testicles (HP:0000028) MYLPF MYLPF 1 1 Johan den Dunnen
00307023 FamHPatIV3 PubMed: Chong 2020 4-generation family, 6 affected (5F, M) F - France - - - - - DA see paper; ..., weight +1.5 SD, height +0.5 SD; small mouth (HP:0000160), retrognathia (HP:0000278); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838) (right); equinovarus (HP:0001762) (left); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); chin skin folds MYLPF MYLPF 1 6 Johan den Dunnen
00307024 FamHPatIII6 PubMed: Chong 2020 - F - France - - - - - DA see paper; ..., weight −0.5 SD, height -0.5 SD; small mouth (HP:0000160); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); shoulder contractures (HP:0003044) MYLPF MYLPF 1 1 Johan den Dunnen
00307025 FamHPatII7 PubMed: Chong 2020 - F - France - - - - - DA see paper; ..., weight +0.5 SD, height 0 SD; small mouth (HP:0000160); normal lip/palate; no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); shoulder contractures (HP:0003044) MYLPF MYLPF 1 1 Johan den Dunnen
00307026 FamHPatIII2 PubMed: Chong 2020 - F - France - - - - - DA see paper; ..., small mouth (HP:0000160); pursed lips (HP:0000205); no limited neck rotation (-HP:0005986); scoliosis (HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); adducted thumbs (HP:0001181), flexed metacarpophalangeal joints (HP:0006070), blepharophimosis (HP:0000581) MYLPF MYLPF 1 1 Johan den Dunnen
00307027 FamHPatIV1 PubMed: Chong 2020 - M - France - - - - - DA see paper; ..., weight −1 SD, height 0 SD; small mouth (HP:0000160); pursed lips (HP:0000205), high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); adducted thumbs (HP:0001181), flexed metacarpophalangeal joints (HP:0006070), fifth finger clinodactyly (HP:0004209) MYLPF MYLPF 1 1 Johan den Dunnen
00307180 D13-090 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA hydrops fetalis; arthrogryposis multiplex congenita; pterygium; rocker bottom foot; hand clenching; talipes BICD2 BICD2 1 1 Gianina Ravenscroft
00307182 D13-1137 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA arthrogryposis multiplex congenita; autosomal dominant inheritance TPM2 TPM2 1 1 Gianina Ravenscroft
00307184 D14-0774 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - DA antenatal onset; abnormal facial shape MYH3 MYH3 1 1 Gianina Ravenscroft
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.