As the number and availability of genetic testing methods increase, more and more genetical terations are recognized,the pathogenicity of which is often questionable. Where as genetic diseases are diverse and unique, not only their diagnosis butal so their follow-upare important. Long-term collection of information facilitate the planning of personalized, optimalhealthcare, which is ensured by the multidisciplinary team of ourinstitute. The aim of myresearch is toclarify the background and genotype-phenotypecorrelations of complex developmental disorders, tofollow-uptheand organize their multidiscilinary care in order to improve the length and quality of those patients’ life.