Phenotypes for disease #00340 (JDSSCDHD (joint dislocations, multiple, short stature, craniofacial dysmorphism, congenital heart defects (JDSSCDHD)), OMIM:245600)

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000014893 see paper - - Familial, autosomal recessive - - - - - Johan den Dunnen 00016301
0000175632 - - - Familial, autosomal recessive 13y - - - - Marco Ritelli 00235371
Legend   How to query