Neurology / Neuropediatrics

• Pontocerebellar hypoplasia type 8 (sequence analysis of CHMP1A gene) + info
   
• Pontocerebellar hypoplasia type 9 (sequence analysis of AMPD2 gene) + info
   
• Pontocerebellar hypoplasia, type 1C (sequence analysis of EXOSC8 gene) + info
   
• Pontocerebellar hypoplasia, type 2E (deletion/duplication analysis of VPS53 gene) + info
   
• Porencephaly 1 (sequence analysis of COL4A1 gene) + info
   
• Porencephaly 2 (sequence analysis of COL4A2 gene) + info
   
• Poretti-Boltshauser syndrome (sequence analysis of LAMA1 gene) + info
   
• Prader-Willi syndrome (sequence analysis of NDN gene) + info
   
• Prader-Willi syndrome (sequence analysis of SNRPN gene) + info
   
• Prader-Willi/Angelman Syndrome (methylation and deletion/duplication analysis by MS-MLPA) + info
   
• Primary aldosteronism, seizures, and neurologic abnormalities (sequence analysis of CACNA1D gene) + info
   
• Primary microcephaly type 5, AR (sequence analysis of ASPM gene) + info
   
• Progressive external ophthalmoplegia (deletion/duplication in the POLG, POLG2, SLC25A4 and TWNK genes) + info
   
• Progressive external ophthalmoplegia (sequence analysis of POLG gene) + info
   
• Progressive external ophthalmoplegia - scoliosis (sequence analysis of ROBO3 gene) + info
   
• Progressive external ophthalmoplegia 4, AD (sequence analysis of POLG2 gene) + info
   
• Progressive external ophthalmoplegia with mitochondrial deletions type 5 (sequence analysis of RRM2B gene) + info
   
• Progressive external ophthalmoplegia with mitochondrial DNA deletions type 2 (sequence analysis of SLC25A4 gene) + info
   
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene) + info
   
• Progressive spastic type 52 (sequence analysis of AP4S1 gene) + info
   

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