Phenotypes for disease #00385 (DA (arthrogryposis, distal (DA)))

156 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000021765 - - - Familial, X-linked recessive - - - - - Rosa Vargas-Poussou 00025648
0000105573 congenital contractural arachnodactyly - - Familial, autosomal dominant - - - - - Johan den Dunnen 00132810
0000127242 congenital hip dislocation, inguinal hernia, ulnal deviation fingers, normal CPK level arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial - - 2y multiple congenital contractures - Johan den Dunnen 00154506
0000127243 multiple congenital contractures, congenital hip dislocation, ulnal deviation fingers, CPK slightly elevated arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial - - - - - Johan den Dunnen 00154507
0000127244 multiple congenital contractures, congenital hip dislocation, ulnal deviation fingers, CPK slightly elevated arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial - - - - - Johan den Dunnen 00154508
0000127245 multiple congenital contractures, congenital hip dislocation, inguinal hernia, ulnal deviation fingers, CPK slightly elevated arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial - - - - - Johan den Dunnen 00154509
0000127246 multiple congenital contractures, ulnal deviation fingers, CPK slightly elevated arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Unknown - - - - - Johan den Dunnen 00154510
0000127247 severe camptodactyly, overlapping fingers (abnormal digital flexion creases, adducted thumbs), talipes planovalgus with flexed toes, scoliosis arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial, autosomal dominant - - - - - Johan den Dunnen 00154511
0000127248 - arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial, autosomal dominant - - - - - Johan den Dunnen 00154512
0000127249 - arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial, autosomal dominant - - - - - Johan den Dunnen 00154513
0000127250 - arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial, autosomal dominant - - - - - Johan den Dunnen 00154514
0000127251 - arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Isolated (sporadic) - - - - - Johan den Dunnen 00154515
0000127252 birth mechanical ventilatory support, hypotonic, asymmetric posture, poor reactivity arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Isolated (sporadic) - - - - - Johan den Dunnen 00154516
0000127253 multiple nonprogressive congenital contractures limbs, no primary neurological / muscle disease affecting limb function arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial, autosomal dominant - - - - - Johan den Dunnen 00154517
0000127611 childhood onset, bilateral severe equinovarus contractures, no facial contractures/scoliosis arthrogryposis, distal arthrogryposis, distal, type 1 (DA-1) Isolated (sporadic) - - - isolated hand/foot contractures - Johan den Dunnen 00154875
0000127612 - arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial - - - - - Johan den Dunnen 00154876
0000127613 - arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Familial - - - - - Johan den Dunnen 00154877
0000127614 - arthrogryposis, distal arthrogryposis, distal, type 2B (DA-2B) Isolated (sporadic) - - - - - Johan den Dunnen 00154878
0000127615 - arthrogryposis, distal (Sheldon-Hall syndrome) DA-2B Unknown - - - - - Tom Winder 00154879
0000127616 - arthrogryposis, distal (Sheldon-Hall syndrome) DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154880
0000127617 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154881
0000127618 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154882
0000127619 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154883
0000127620 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154884
0000127621 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154885
0000127622 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154886
0000127623 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154887
0000127624 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154888
0000127625 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154889
0000127626 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154890
0000127627 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154891
0000127628 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154892
0000127629 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154893
0000127630 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154894
0000127631 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154895
0000127632 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154896
0000127633 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154897
0000127634 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154898
0000127635 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154899
0000127636 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154900
0000127637 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154901
0000127638 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154902
0000127639 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154903
0000127640 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154904
0000127641 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154905
0000127642 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154906
0000127643 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154907
0000127644 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154908
0000127645 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154909
0000127646 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154910
0000127647 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154911
0000127648 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154912
0000127649 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154913
0000127650 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154914
0000127651 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154915
0000127652 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154916
0000127653 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154917
0000127654 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154918
0000127655 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154919
0000127656 - - DA-1 Isolated (sporadic) - - - - - Johan den Dunnen 00154920
0000127657 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154921
0000127658 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154922
0000127659 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154923
0000127660 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154924
0000127661 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154925
0000127662 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154926
0000127663 - - DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00154927
0000127664 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154928
0000127665 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154929
0000127666 - - DA-2B Familial, autosomal dominant - - - - - Johan den Dunnen 00154930
0000127667 - - DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00154931
0000161961 - distal arthrogryposis DA-1 Familial, autosomal dominant - - - - - Johan den Dunnen 00213502
0000161962 distal joint contractures at birth, progressive muscle weakness proximal and distal muscles distal arthrogryposis DA-2B Isolated (sporadic) - - - - - Johan den Dunnen 00213503
0000161963 distal joint contractures at birth, muscle weakness proximal and distal muscles distal arthrogryposis DA-2B Familial - - - - - Johan den Dunnen 00213504
0000161973 - distal arthrogryposis - Unknown - - - - - Tom Winder 00213514
0000161974 - distal arthrogryposis - Isolated (sporadic) - - - - - Tom Winder 00213515
0000161989 distal contractures, rocker-bottom feet distal arthrogryposis DA Familial, autosomal dominant - - - - - Tom Winder 00213535
0000161990 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 athrogryposis, distal; myopathy, congenital - Familial, autosomal dominant - - 1d - - Minttu Marttila 00213536
0000161991 hypotonia, joint contractures, and bilateral club foot (at birth); ; cannot walk without support distal arthrogryposis - Familial, autosomal dominant - - - - - Minttu Marttila 00213537
0000161998 contractures of lower joints distal arthrogryposis - Unknown - - - - - Tom Winder 00213544
0000180244 see paper; ... distal arthrogryposis - Familial, autosomal recessive - - - - - Andreas Janecke 00079635
0000232836 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) distal arthrogryposis - Familial, autosomal recessive 13y - - - - Johan den Dunnen 00307011
0000232837 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) distal arthrogryposis - Familial, autosomal recessive 24y - - - - Johan den Dunnen 00307012
0000232838 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) distal arthrogryposis - Familial, autosomal recessive 6y6m - - - - Johan den Dunnen 00307013
0000232839 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) distal arthrogryposis - Familial, autosomal recessive 29y - - - - Johan den Dunnen 00307014
0000232840 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) distal arthrogryposis - Familial, autosomal recessive 8m - - - - Johan den Dunnen 00307015
0000232841 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) distal arthrogryposis - Familial, autosomal recessive 1d - - - - Johan den Dunnen 00307016
0000232842 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 distal arthrogryposis - Familial, autosomal recessive <0d - - - - Johan den Dunnen 00307017
0000232843 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) distal arthrogryposis - Familial, autosomal recessive <0d - - - - Johan den Dunnen 00307018
0000232844 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) distal arthrogryposis - Familial, autosomal recessive 38y - - - - Johan den Dunnen 00307019
0000232845 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) distal arthrogryposis - Familial, autosomal recessive 36y - - - - Johan den Dunnen 00307020
0000232846 see paper; ..., camptodactyly, fingers (HP:0100490); contractures of wrists (HP:0001239) distal arthrogryposis - Familial, autosomal recessive >18y - - - - Johan den Dunnen 00307021
0000232847 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) distal arthrogryposis - Familial, autosomal recessive 1y - - - - Johan den Dunnen 00307022
0000232848 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 distal arthrogryposis - Familial, autosomal recessive 6y - - - - Johan den Dunnen 00307023
0000232849 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) distal arthrogryposis - Familial, autosomal recessive 39y - - - - Johan den Dunnen 00307024
0000232850 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) distal arthrogryposis - Familial, autosomal recessive 69y - - - - Johan den Dunnen 00307025
0000232851 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) distal arthrogryposis - Familial, autosomal recessive 26y - - - - Johan den Dunnen 00307026
0000232852 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) distal arthrogryposis - Familial, autosomal recessive 6m - - - - Johan den Dunnen 00307027
0000232985 hydrops fetalis; arthrogryposis multiplex congenita; pterygium; rocker bottom foot; hand clenching; talipes distal arthrogryposis - Isolated (sporadic) - - - - - Gianina Ravenscroft 00307180
0000232987 arthrogryposis multiplex congenita; autosomal dominant inheritance distal arthrogryposis - Familial, autosomal dominant - - - - - Gianina Ravenscroft 00307182
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