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Progeroid syndromes (NGS panel for 12 genes)
+ info
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Progressive external ophthalmoplegia (CPEO, 4977bp deletion in mtDNA)
+ info
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Progressive external ophthalmoplegia (deletion/duplication in the POLG, POLG2, SLC25A4 and TWNK genes)
+ info
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Progressive external ophthalmoplegia (NGS panel of 12 genes)
+ info
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Progressive external ophthalmoplegia (sequence analysis of POLG gene)
+ info
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Progressive external ophthalmoplegia - scoliosis (sequence analysis of ROBO3 gene)
+ info
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Progressive external ophthalmoplegia 4, AD (sequence analysis of POLG2 gene)
+ info
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Progressive external ophthalmoplegia and scoliosis (deletion/duplication analysis of ROBO3 gene)
+ info
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Progressive external ophthalmoplegia with mitochondrial deletions type 5 (sequence analysis of RRM2B gene)
+ info
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Progressive external ophthalmoplegia with mitochondrial DNA deletions type 2 (sequence analysis of SLC25A4 gene)
+ info
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Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene)
+ info
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Progressive familial heart block type IB (sequence analysis of TRPM4 gene)
+ info
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Progressive familial intrahepatic cholestasis (NGS panel of 5 genes)
+ info
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Progressive spastic type 52 (sequence analysis of AP4S1 gene)
+ info
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Progressive Symmetric Erythrokeratodermia (sequence analysis of LOR gene)
+ info
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Properdin deficiency, X-linked (deletion/duplication analysis on CFP gene)
+ info
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Propionic acidemia (deletion/duplication analysis of PCCB gene)
+ info
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Propionic acidemia (deletion/duplication analysis on PCCA gene)
+ info
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Propionic Acidemia (NGS panel of 5 genes)
+ info
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Propionic acidemia (sequence analysis of PCCB gene)
+ info
