-
Autosomal dominant popliteal pterygium syndrome (deletion/duplication analysis on IRF6 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 early-onset inflammatory bowel disease (deletion/duplicaction analysis on TTC7A gene)
+ info
-
Autosomal recessive early-onset inflammatory bowel disease (sequence analysis of TTC7A gene)
+ info
-
Autosomal recessive hyper IgE syndrome (sequence analysis of DOCK8 gene)
+ info
-
Autosomal recessive hypophosphatemic rickets (sequence analysis of DMP1 gene)
+ info
-
Autosomal recessive polycystic kidney disease (NGS panel of 2 genes)
+ info
-
Autosomal recessive primary microcephaly 2, with or without cortical malformations (deletion/duplication analysis on WDR62 gene)
+ info
-
Axenfeld-Rieger syndrome (deletion/duplication analysis on PITX2 and FOXC1 genes)
+ info
-
Axenfeld-Rieger syndrome (sequence analysis of FOXC1 gene)
+ info
-
Axenfeld-Rieger syndrome (sequence analysis of PITX2 gene)
+ info
