Phenotypes for disease #00690 (SEMDSTWK (dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK)), OMIM:184250)

27 entries on 1 page. Showing entries 1 - 27.
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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     
0000020407 - - - Unknown - - - - - Johan den Dunnen 00024289
0000020408 - - - Unknown - - - - - Johan den Dunnen 00024290
0000020409 - - - Unknown - - - - - Johan den Dunnen 00024291
0000020491 - - - Unknown - - - - - Johan den Dunnen 00024373
0000020492 - - - Unknown - - - - - Johan den Dunnen 00024374
0000020566 - - - Unknown - - - - - Johan den Dunnen 00024448
0000020653 - - - Unknown 7y - - - - Isabelle Touitou 00024535
0000020654 severe myopia deafness short stature - - Unknown 31y - - - - Isabelle Touitou 00024536
0000020670 - - - Unknown 11y - 10y - - Isabelle Touitou 00024552
0000020680 - - - Unknown 3y - - - - Isabelle Touitou 00024562
0000020681 - - - Unknown 3y - 3y - - Isabelle Touitou 00024563
0000020926 - - - Unknown - - - - - Isabelle Touitou 00024808
0000020934 - - - Unknown - - - - - Isabelle Touitou 00024816
0000020950 - - - Unknown - - - - - Isabelle Touitou 00024832
0000020961 - - - Unknown - - - - - Isabelle Touitou 00024843
0000020967 - - - Unknown - - - - - Isabelle Touitou 00024849
0000020974 - - - Unknown - - - - - Isabelle Touitou 00024856
0000020975 - - - Unknown - - - - - Isabelle Touitou 00024857
0000021000 - - - Unknown - - - - - Isabelle Touitou 00024882
0000021015 - - - Unknown - - - - - Isabelle Touitou 00024897
0000021038 - - - Unknown - - - - - Johan den Dunnen 00024920
0000028954 - - - Unknown 11y - - - - Isabelle Touitou 00038427
0000087518 scoliosis, hip dislocation, hip prothesis - - Familial 39y - - - - Mouna Barat-Houari 00111655
0000092596 myopia, fangs agenesia - - Isolated (sporadic) 09y06m - - - - Mouna Barat-Houari 00117362
0000092600 disproportional short stature, short neck, pectus carinatum, genu varum, bilateral pes planus, and obvious waddling gait - - Familial, autosomal dominant 02y03m - - - - Mouna Barat-Houari 00117366
0000092785 - - - Isolated (sporadic) 05y - - - - Mouna Barat-Houari 00117472
0000092976 - - - Isolated (sporadic) 00y09m - - - - Mouna Barat-Houari 00117506
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