extremity-predominant spinal muscular atrophy type 2 AD 12 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 12 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 4 Spinal Muscular Atrophy, Type I 1 Spinal Muscular Atrophy, Type II 1 Spinal Muscular Atrophy, Type III 1 Spinal
[preventiongenetics.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
601331 ] BICD2 Q8TD16 non-pleiotropic Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM: 615290 ] BIN1 O00499 non-pleiotropic Myopathy
[sbg.bio.ic.ac.uk]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 12 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 DYNC1H1 Spinal muscular atrophy, lower extremity-predominant, AD, 158600 UBA1 Spinal muscular
[gsdseq.ir]
lower extremity, autosomal dominant, type 2 BICD2 Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant DYNC1H1 Spinocerebellar ataxia type 1, autosomal
[centogene.com]
atrophy, X-linked 2, infantile, 301830 CHCHD10 Spinal muscular atrophy,Jokela type, 615048 TRPV4 Spondylometaphyseal dysplasia, Kozlowski type, 184252 STIM1 Stormorken syndrome
[gsdseq.ir]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 4 Spinal Muscular Atrophy, Type I 1 Spinal Muscular Atrophy, Type II 1 Spinal Muscular Atrophy, Type III 1 Spinal
[preventiongenetics.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 DYNC1H1 Spinal muscular atrophy, lower extremity-predominant, AD, 158600 UBA1 Spinal muscular
[gsdseq.ir]
atrophy, X-linked 2, infantile, 301830 CHCHD10 Spinal muscular atrophy,Jokela type, 615048 TRPV4 Spondylometaphyseal dysplasia, Kozlowski type, 184252 STIM1 Stormorken syndrome
[gsdseq.ir]
184095 KCNJ2 Short QT syndrome-3, 609622 GNE Sialuria, 269921 TRPV4 Sodium serum level QTL 1, 613508 TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive, 600175
[gsdseq.ir]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
601331 ] BICD2 Q8TD16 non-pleiotropic Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM: 615290 ] BIN1 O00499 non-pleiotropic Myopathy
[sbg.bio.ic.ac.uk]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]
extremity-predominant spinal muscular atrophy type 2 AD 12 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary
[centogene.com]
[…] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower
[centogene.com]