Page 11 - PCC08
P. 11
Severe early‐onset disorders occur sporadic and are associated with reduced fitness
Rare malformation syndromes
Intellectual disability (ID) Autism
Epilepsy
Schizophrenia
(Infertility?)
Rare Mendelian disease variants are rare in the population
Depending of frequency of
variant in population one must choice the technology to find them
Page 5 of 102
PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 11
