Phenotypes for disease #00692 (SED (dysplasia, spondyloperipheral (SED)), OMIM:271700)

37 entries on 1 page. Showing entries 1 - 37.
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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     
0000020404 - - - Unknown - - - - - Johan den Dunnen 00024286
0000020410 - - - Unknown - - - - - Johan den Dunnen 00024292
0000020423 - - - Unknown - - - - - Johan den Dunnen 00024305
0000020425 - - - Unknown - - - - - Johan den Dunnen 00024307
0000020427 - - - Unknown - - - - - Johan den Dunnen 00024309
0000020431 - - - Unknown - - - - - Johan den Dunnen 00024313
0000020452 - - - Unknown - - - - - Johan den Dunnen 00024334
0000020465 see paper; ... - - Unknown - - - - - Johan den Dunnen 00024347
0000020481 - - - Unknown 3y - - - - Johan den Dunnen 00024363
0000020498 - - - Isolated (sporadic) 6y - 4y - - Isabelle Touitou 00024380
0000020499 - - - Isolated (sporadic) - - 0y - - Isabelle Touitou 00024381
0000020521 spondyloepiphyseal dysplasia tarda - - Unknown - - - - - Johan den Dunnen 00024403
0000020531 - - - Familial - - - - - Johan den Dunnen 00024413
0000020559 - - - Unknown - - - - - Johan den Dunnen 00024441
0000020560 - - - Unknown - - - - - Johan den Dunnen 00024442
0000020561 - - - Unknown - - - - - Johan den Dunnen 00024443
0000020562 - - - Unknown - - - - - Johan den Dunnen 00024444
0000020563 - - - Unknown - - - - - Johan den Dunnen 00024445
0000020571 - - - Unknown - - - - - Johan den Dunnen 00024453
0000020588 - - - Unknown - - - - - Johan den Dunnen 00024470
0000020655 - - - Unknown 1m - - - - Isabelle Touitou 00024537
0000020888 - - - Isolated (sporadic) 12y - - - - Isabelle Touitou 00024770
0000020889 - - - Familial 11y - 5y6m - - Isabelle Touitou 00024771
0000020890 - - - Familial 11m - - - - Isabelle Touitou 00024772
0000020952 - - - Unknown - - - - - Isabelle Touitou 00024834
0000020953 - - - Unknown - - - - - Isabelle Touitou 00024835
0000021026 spondyloepiphyseal dysplasia tarda - - Unknown - - - - - Johan den Dunnen 00024908
0000021030 - - - Unknown - - - - - Johan den Dunnen 00024912
0000021034 spondyloepiphyseal dysplasia tarda - - Unknown - - - - - Johan den Dunnen 00024916
0000028930 - - - Unknown 28y - 4y - - Isabelle Touitou 00038403
0000028931 18WG - - Unknown - - <0d - - Isabelle Touitou 00038404
0000028939 - - - Unknown - - - - - Isabelle Touitou 00038412
0000028967 - - - Isolated (sporadic) - - - - - Isabelle Touitou 00038440
0000028979 - - - Familial - - - - - Isabelle Touitou 00038452
0000028980 - - - Familial - - - - - Isabelle Touitou 00038453
0000029007 - - - Isolated (sporadic) 1d - 1d - - Isabelle Touitou 00038480
0000092695 Odontoid process hypoplasia, Platyspondyly, Atlantoaxial subluxation, Shoulder OA, hip deformation - - Familial, autosomal dominant 50y - - - - Mouna Barat-Houari 00117464
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