Neurology / Neuropediatrics
-
Autism susceptibility 18 (sequence analysis of CHD8 gene)
+ info
-
Autism susceptibility, X-linked type 5 (sequence analysis of RPL10 gene)
+ info
-
Autosomal dominant spastic ataxia 1 (sequence analysis of VAMP1 gene)
+ info
-
Autosomal recessive cutis laxa type 2A (sequence analysis of ATP6V0A2 gene)
+ info
-
Autosomal recessive primary microcephaly 2, with or without cortical malformations (deletion/duplication analysis on WDR62 gene)
+ info