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