Phenotypes for disease #01370 (Spondyloepiphyseal dysplasia with congenital joint dislocations, OMIM:143095)

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AscendingPhenotype ID     

Phenotype details     

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Age/Diagnosis     

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Individual ID     
0000059092 at birth joint dislocations, short stature; breech presentation, post natal short stature (5y 90 cm (<3rd)); elbow joint subluxation or limited extension, no hipdysplasia/dislocation, knee luxation or genu recurvatum, club feet - - Familial, autosomal recessive - - - - - Johan den Dunnen 00079372
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