Neurology / Neuropediatrics

• Leigh syndrome, French-Canadian type (sequence analysis of LRPPRC gene) + info
   
• Lesch-Nyhan syndrome | Kelley-Seegmille syndrome (deletion/duplication analysis on HPRT1 gene) + info
   
• Lesch-Nyhan syndrome | Kelley-Seegmiller syndrome (sequence analysis of HPRT1) + info
   
• Leukodystrophy and leukoencephalopathy (WES based NGS panel of 90 genes, including CNV analysis) + info
   
• Leukodystrophy demyelinating adult-onset, AD (sequence analysis of LMNB1 gene) + info
   
• Leukodystrophy hypomyelinating (NGS panel for 3 genes) + info
   
• Leukodystrophy hypomyelinating type 3 (sequence analysis of AIMP1 gene) + info
   
• Leukodystrophy hypomyelinating type 4 (sequence analysis of HSPD1 gene) + info
   
• Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene) + info
   
• Leukodystrophy hypomyelinating type 8 (sequence analysis of POLR3B gene) + info
   
• Leukoencephalopathy cystic without megalencephaly (sequence analysis of RNASET2 gene) + info
   
• Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (deletion/duplication analysis of DARS2 gene) + info
   
• Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (sequence analysis of DARS2 gene) + info
   
• Leukoencephalopathy with dystonia and motor neuropathy (sequence analysis of SCP2 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B1 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B2 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B3 gene) + info
   
• Leukoencephalopathy with vanishing white matter (sequence analysis of EIF2B4 gene) + info
   
• Leukoencephalopathy with Vanishing White Matter (sequence analysis of EIF2B5 gene) + info
   
• Leukoencephalopathy, diffuse hereditary, with spheroids (sequence analysis of CSF1R gene) + info
   

• 1
• 2
• 3
• 4
• 5
• 6
• 7
• 8
• 9
• 10
• 11
• 12
• 13
• 14
• 15
• 16
• 17
• 18
• 19
• 20
• 21
• 22
• 23
• 24
• 25
• 26
• 27
• 28
• 29
• 30
• 31
• 32
• 33
• 34
• 35
• 36
• 37
• 38
• 39
• 40
• 41
• 42
• 43
• 44
• 45
• 46
• 47
• 48
• 49
• 50
• 51
• 52
• 53
• 54
• 55
• 56
• 57
• 58
• 59
• 60
• 61
• 62
• 63
• 64
• 65
• 66
• 67
• 68
• 69
• 70
• 71
• 72
• 73
• 74
• 75
• 76
• 77
• 78