Neurology / Neuropediatrics

• X-linked Emery-Dreifuss muscular dystrophy type 6 (sequence analysis of FHL1 gene) + info
   
• X-linked mental retardation (deletion/duplication analysis, multiple genes) + info
   
• X-linked mental retardation, Siderius type (deletion/duplication analysis on PHF8 gene) + info
   
• X-linked non-specific intellectual disability (deletion/duplication analysis on FRMPD4 gene) + info
   
• Xanthinuria type I (sequence analysis of XDH gene) + info
   
• Xanthinuria type II (sequence analysis of MOCOS gene) + info
   
• Xeroderma pigmentosum disease (NGS panel for 8 genes) + info
   
• Xeroderma pigmentosum disease (sequence analysis of XPA gene) + info