Search results for twnk

30 hits were found for twnk

# Family MCID Name MIFTS Score
1
c TWN008 Twnk-Related Ataxia Neuropathy Spectrum Disorders 4 9.396
2
TWN009 Twnk-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 5 9.100
3
MTC054 Mitochondrial Dna Depletion Syndrome 7 39 6.445
4
PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 34 5.588
5
c PRR026 Perrault Syndrome 5 20 5.315
6
P PRR025 Perrault Syndrome 36 4.754
7
P ATX004 Ataxia 52 3.869
8
c CHR095 Chronic Progressive External Ophthalmoplegia 43 3.829
9
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 28 3.362
10
P MYP004 Myopathy 68 3.316
11
KRN002 Kearns-Sayre Syndrome 57 3.316
12
P MTC069 Mitochondrial Disorders 55 3.316
13
DBT004 Diabetic Polyneuropathy 47 3.316
14
P AXN001 Axonal Neuropathy 36 3.316
15
MTC057 Mitochondrial Recessive Ataxia Syndrome 50 2.882
16
BLL001 Baller-Gerold Syndrome 51 2.708
17
MTC056 Mitochondrial Dna Depletion Syndrome 4a 45 2.708
18
c SPN304 Spinocerebellar Ataxia 8 42 2.708
19
c HRD026 Hereditary Ataxia 42 2.708
20
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42 2.708
21
WRS002 Warsaw Breakage Syndrome 42 2.708
22
c 3MT014 3-Methylglutaconic Aciduria, Type V 39 2.708
23
OCL011 Ocular Motility Disease 38 2.708
24
ATH004 Athetosis 26 2.708
25
MTC063 Mitochondrial Dna Depletion Syndrome 3 32 2.083
26
MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7 1.984
27
P NRP001 Neuropathy 57 0.084
28
P ATX010 Ataxia Neuropathy Spectrum 27 0.084
29
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.084
30
MTC034 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 8 0.084
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