RARE DISEASES CATALOGUE

15q13.3 microdeletion syndrome
1p36 deletion syndrome
2-methylbutyryl-CoA dehydrogenase deficiency
21q22.13q22.2 microdeletion syndrome
22q11.2 deletion syndrome
2q24 microdeletion syndrome
2q32q33 microdeletion syndrome
2q37 microdeletion syndrome
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
3-methylglutaconic aciduria type 1
3C syndrome
3M syndrome
4-hydroxybutyric aciduria
46,XX gonadal dysgenesis
46,XX ovotesticular disorder of sex development
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development due to 17-betahydroxysteroid dehydrogenase 3 deficiency
48,XXYY syndrome
5-oxoprolinase deficiency
6q terminal deletion