Phenotypes for disease #00603 (EVC (Ellis-van Creveld syndrome (EVC)), OMIM:225500)

152 entries on 2 pages. Showing entries 1 - 100.
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Individual ID     
0000045144 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00058525
0000045145 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00058524
0000232834 Partial AVCD with common atrium, postaxial polydactyly of the left hand and both feet, and agenesis of the upper lateral incisors bilaterally Ellis van Creveld Syndrome Ellis van Creveld Syndrome Unknown - - - - - Francesca Piceci Sparascio 00307008
0000232835 Single atrium with partial AVCD, and persistent left superior vena cava draining into the left atrium. Bilateral postaxial polydactyly of hands (operated at 4 years) and feet. X-ray showed clinodactyly of the 5th finger, postaxial polydactyly of toes, proximal fusion between 3rd and 4th, and 5th and 6th toes and metatarsal bones at left. Nails showed no abnormalities. Oral anomalies included agenesis of both upper lateral incisors and lower central incisor bilaterally, and multiple frenula between the upper lip and gingiva. Ellis van Creveld Syndrome Ellis van Creveld Syndrome Familial, autosomal recessive - - - - - Francesca Piceci Sparascio 00307010
0000232909 father/daughter postaxial polydactyly hands and feet, partial atrioventricular canal with common atrium and agenesis upper lateral incisors bilaterally with enamel abnormalities Ellis-van Creveld syndrome - Unknown - - - - - Johan den Dunnen 00307097
0000232931 see paper; ..., height 124.5 cm; short limbs, polydactyly hands/feet, no syndactyly, brachydactyly; nail dysplasia; genu valgum; no cardiac malformation; hypodontia/dysplastic teeth Ellis-van Creveld syndrome EVC Familial, autosomal recessive 18y - - - - Johan den Dunnen 00307126
0000232932 see paper; ..., height 151 cm; short limbs, polydactyly hands/right foot, no syndactyly, brachydactyly; nail dysplasia; genu valgum; atrial septal defect; hypodontia/dysplastic teeth Ellis-van Creveld syndrome EVC Familial, autosomal recessive 30y - - - - Johan den Dunnen 00307127
0000244352 see paper; ... Ellis-van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325865
0000244353 see paper; ... Ellis-van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325866
0000244368 common atrium/partial AV canal, short stature, polydactyly Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325881
0000244369 ccommon atrium/partial AV canal, short stature, polydactyly Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325882
0000244370 common atrium/partial AV canal, large patent ductus arteriosis, short stature, polydactyly Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325883
0000244371 common atrium/partial AV canal, coarctation of the aorta, short stature, polydactyly Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325884
0000244372 common atrium/partial AV canal, short stature, polydactyly Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325885
0000244373 see paper; ... Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325886
0000244374 see paper; ... Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325887
0000244375 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325888
0000244376 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325889
0000244377 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325890
0000244378 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325891
0000244379 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325892
0000244380 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325893
0000244381 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325894
0000244382 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325895
0000244383 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325896
0000244384 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325897
0000244385 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325898
0000244386 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325899
0000244387 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325900
0000244388 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325901
0000244389 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325902
0000244390 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325903
0000244391 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325904
0000244392 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325905
0000244393 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325906
0000244394 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325907
0000244395 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325908
0000244396 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325909
0000244397 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325910
0000244398 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325911
0000244399 see paper; ..., atrial septal defect, short limb dysplasia with genu valgum, polydactyly, multiple oral frenulae, oligodontia, dysplastic teeth Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325912
0000244400 short limb dysplasia, short ribs, postaxial polydactyly hands, dysplastic nails, dysplastic teeth, hyperplasia alveolar ridges, multiple oral frenulae; patent arterial duct, no other cardiac abnormality Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325913
0000244401 stillborn child, ventricular septal defect, short limbs with postaxial polydactyly hands; radiographs short limbs, classical pelvic configuration Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325914
0000244402 disproportionate short stature, acromesomelic limb shortening, short ribs, postaxial polydactyly hands, nail dysplasia, fusion hamate and capitate; oligodontia, dysplastic teeth, multiple oral frenulae; genu valgum (1/2) Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325915
0000244403 ostium primum atrial septal defects, short limb dysplasia, postaxial polydactyly hands, nail dysplasia, tooth dysplasia Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325916
0000244404 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325917
0000244405 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325918
0000244406 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325919
0000244407 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325920
0000244408 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325921
0000244409 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325922
0000244410 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325923
0000244411 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325924
0000244412 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325925
0000244413 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325926
0000244414 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325927
0000244415 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325928
0000244416 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325929
0000244417 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325930
0000244418 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325931
0000244419 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325932
0000244420 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325933
0000244421 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325934
0000244422 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325935
0000244423 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325936
0000244424 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325937
0000244425 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325938
0000244426 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325939
0000244427 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325940
0000244428 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00325941
0000244491 short stature, postaxial polydactyly, short ribs, common atrium, tricuspid valve anomaly Ellis van Creveld syndrome EVC Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326006
0000244492 short stature, postaxial polydactyly, hypoplasia of the third phalanges in hands and feet, nail hypoplasia, hypodontia, ichthyosis Ellis van Creveld syndrome EVC Familial, autosomal recessive 32y - - - - Johan den Dunnen 00326007
0000244493 short stature, postaxial polydactyly, short limbs, short ribs, hypoplastic nails, multiple oral frenula Ellis van Creveld syndrome EVC Familial, autosomal recessive <2d - - - - Johan den Dunnen 00326008
0000244494 postaxial polydactyly, short limbs, short ribs, pulmonary hypoplasia, atrial septal defect Ellis van Creveld syndrome EVC Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326009
0000244495 short stature, postaxial polydactyly, neonatal teeth Ellis van Creveld syndrome EVC Familial, autosomal recessive 1y - - - - Johan den Dunnen 00326010
0000244496 short stature, postaxial polydactyly, short ribs, hypodontia, abnormally shaped teeth, multiple oral frenula, narrow palate, atrial septal defect, club foot, frequent respiratory infections, facial anomalies Ellis van Creveld syndrome EVC Familial, autosomal recessive 8y - - - - Johan den Dunnen 00326011
0000244497 postaxial polydactyly, short limbs, short ribs, no oral frenulae, hypoplastic left ventricle, left ventricle outflow tract obstruction, ventricular septal defect, postaxial polydactyly, anteriorly placed anus, club feet, facial anomalies, syndactyly, coronal cleft in lumbar vertebrae, gallbladder hypoplasia, pyelectasia Ellis van Creveld syndrome EVC Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326012
0000244498 postaxial polydactyly, short limbs, hypoplastic left heart with mitral stenosis, aortic valve atresia, left ventricular and aortic hypoplasia, micrognathia, facial anomalies, syndactyly Ellis van Creveld syndrome EVC Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326013
0000244499 short stature, postaxial polydactyly, short ribs, atrial septal defect, hypodontia, carpal bone fusion, bowed humeri, onychodystrophy, brachydactyly Ellis van Creveld syndrome EVC Familial, autosomal recessive 25y - - - - Johan den Dunnen 00326014
0000244500 short stature, postaxial polydactyly, short limbs, short ribs Ellis van Creveld syndrome EVC Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326015
0000244501 postaxial polydactyly, hypoplastic nails, multiple oral frenula, teeth anomalies, atrioventricular block Ellis van Creveld syndrome EVC Familial, autosomal recessive 6y - - - - Johan den Dunnen 00326016
0000244502 short stature, postaxial polydactyly, short ribs, partial atrioventricular canal Ellis van Creveld syndrome EVC Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326017
0000244503 short stature, postaxial polydactyly, hypoplastic nails, multiple oral frenula, hypodontia and enamel hypoplasia, patent foramen ovale, hypospadias Ellis van Creveld syndrome EVC Familial, autosomal recessive 4y - - - - Johan den Dunnen 00326018
0000244504 postaxial polydactyly, short limbs, dysplastic nails, gingival anomalies, complete atrioventricular canal Ellis van Creveld syndrome EVC Familial, autosomal recessive 6m - - - - Johan den Dunnen 00326019
0000244505 postaxial polydactyly, uncle with polydactyly hypoplastic nails, multiple oral frenula, neonatal teeth, hypoplastic left heart syndrome, aortic coarctation Ellis van Creveld syndrome EVC Familial, autosomal recessive 1y - - - - Johan den Dunnen 00326020
0000244506 short stature, postaxial polydactyly, short ribs, hypoplastic nails, multiple oral frenula, irregular alveolar ridge, premature eruption of teeth, partial atrioventicular canal, aortic coarctation, Ellis van Creveld syndrome EVC Familial, autosomal recessive 3m - - - - Johan den Dunnen 00326021
0000244507 short stature, postaxial polydactyly, hypoplastic nails, enamel hypoplasia, hypodontia, abnormally shaped teeth, delayed eruption of teeth, common atrium, tricuspid and mitral valve anomalies, patent ductus arteriosus, genu valgum Ellis van Creveld syndrome EVC Familial, autosomal recessive 19y - - - - Johan den Dunnen 00326022
0000244508 short stature, postaxial polydactyly, short limbs, hypoplastic nails, partial atrioventricular canal Ellis van Creveld syndrome EVC Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326023
0000244509 short stature, postaxial polydactyly, short ribs, nail hypoplasia, complete atrioventricular canal, small ventricular septal defect component left superior vena cava drains into left atrium by unroofed coronary sinus, Dandy-Walker malformation, epispadias, hypotonia Ellis van Creveld syndrome EVC Familial, autosomal recessive 4m - - - - Johan den Dunnen 00326024
0000244510 - Ellis van Creveld syndrome EVC Familial, autosomal recessive - - - - - Johan den Dunnen 00326025
0000244512 short stature, postaxial polydactyly, short ribs, narrow palate Ellis van Creveld syndrome EVC2 Familial, autosomal recessive 23y - - - - Johan den Dunnen 00326027
0000244513 short stature, postaxial polydactyly, short limbs, hypoplastic nails, multiple oral frenula, patent ductus arteriosus, aortic valve stenosis, congenital thoracolumbar scoliosis Ellis van Creveld syndrome EVC2 Familial, autosomal recessive 6y - - - - Johan den Dunnen 00326028
0000244514 postaxial polydactyly, short limbs, short ribs, partial atrioventricular canal, hypoplastic lungs, club feet Ellis van Creveld syndrome EVC2 Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326029
0000244515 bilateral postaxial hands and feet polydactyly, nail hypoplasia, thin dry hair, abnormally shaped teeth, multiple oral frenula, ventricular septal defect, aortic coarctation, Ellis van Creveld syndrome - Unknown 11m - - - - Johan den Dunnen 00326030
0000244516 short stature, postaxial polydactyly, short ribs, anteriorly placed anus Ellis van Creveld syndrome EVC2 Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326031
0000244517 normal stature, postaxial polydactyly, hypoplastic nails, hypodontia and enamel hypoplasia, abnormally shaped teeth Ellis van Creveld syndrome WAD Unknown 4y - - - - Johan den Dunnen 00326032
0000244518 postaxial polydactyly, hypoplastic nails, atrial septal defect, patent ductus arteriosus, multiple oral frenula Ellis van Creveld syndrome EVC2 Familial, autosomal recessive <0d - - - - Johan den Dunnen 00326033
0000244519 short stature, postaxial polydactyly, dysplastic or absent nails, sparse hair, multiple oral frenula, Shone's complex,ventricular septal defect, bilateral deafness Ellis van Creveld syndrome EVC2 Familial, autosomal recessive 2y - - - - Johan den Dunnen 00326034
0000244520 short stature, postaxial polydactyly, short limbs, short ribs, multiple oral frenula, teeth anomalies Ellis van Creveld syndrome EVC Unknown 13y - - - - Johan den Dunnen 00326035
0000244521 short stature, postaxial polydactyly, common atrium, corpus callosum hypoplasia Ellis van Creveld syndrome EVC Unknown <0d - - - - Johan den Dunnen 00326036
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