Neurology / Neuropediatrics

• Ondine syndrome (deletion/duplication analysis on PHOX2B gene) + info
   
• Opitz GBBB syndrome (sequence analysis of MID1 gene) + info
   
• Opitz-Kaveggia syndrome (deletion/duplication analysis on MED12 gene) + info
   
• Optic atrophy 10 with or without ataxia, mental retardation, and seizures (sequence analysis of RTN4IP1 gene) + info
   
• Oral-facial-digital syndrome (sequence analysis of C2CD3 gene) + info
   
• Oral-facial-digital syndrome 1 (sequence analysis of OFD1 gene) + info
   
• Ornithine transcarbamylase deficiency (deletion/duplication analysis on OTC gene) + info
   
• Ornithine transcarbamylase deficiency (sequence analysis of OTC gene) + info
   
• Orotic aciduria (deletion/duplication analysis on UMPS gene) + info
   
• Orotic aciduria (sequence analysis of UMPS gene) + info
   
• Osteopetrosis (NGS panel of 9 genes) + info
   
• Osteopetrosis with renal tubular acidosis 3, AR (sequence analysis of CA2 gene) + info
   
• Osteopetrosis, autosomal recessive 4 (sequence analysis of CLCN7 gene) + info
   
• Osteopetrosis, autosomal recessive 7 (sequence analysis of TNFRSF11A gene) + info
   
• Otofaciocervical syndrome (deletion/duplication analysis of PAX1 gene) + info