Search results for dna2

33 hits were found for dna2

# Family MCID Name MIFTS Score
1
c SCK033 Seckel Syndrome 8 30 5.983
2
c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 28 5.799
3
P SCK004 Seckel Syndrome 57 4.184
4
DWR001 Dwarfism 44 3.604
5
ISL014 Isolated Growth Hormone Deficiency, Type Ia 55 3.073
6
XRD010 Xeroderma Pigmentosum, Variant Type 73 2.908
7
P MCR010 Microcephaly 58 2.908
8
c FNC027 Fanconi Anemia, Complementation Group a 81 2.173
9
P TRC102 Trichothiodystrophy 1, Photosensitive 65 2.056
10
P RTH006 Rothmund-Thomson Syndrome, Type 2 64 2.056
11
BLL001 Baller-Gerold Syndrome 59 2.056
12
c MTC054 Mitochondrial Dna Depletion Syndrome 7 50 2.056
13
RPD002 Rapadilino Syndrome 48 2.056
14
c SCK015 Seckel Syndrome 2 41 2.056
15
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 40 2.056
16
P MTC140 Mitochondrial Dna Maintenance Defects 24 2.056
17
P MYP004 Myopathy 64 0.138
18
P LNG028 Long Qt Syndrome 65 0.112
19
c MYP132 Myopathy, Congenital 55 0.112
20
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.112
21
P MTC133 Mitochondrial Myopathy 49 0.112
22
DFC004 Deficiency Anemia 75 0.079
23
WRN001 Werner Syndrome 69 0.079
24
BLM001 Bloom Syndrome 66 0.079
25
KRN002 Kearns-Sayre Syndrome 63 0.079
26
P SNS001 Sensorineural Hearing Loss 61 0.079
27
P MTC069 Mitochondrial Disorders 56 0.079
28
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.079
29
P PTS002 Ptosis 52 0.079
30
c FNC029 Fanconi Anemia, Complementation Group I 50 0.079
31
TTR011 Tetraploidy 47 0.079
32
c CHR095 Chronic Progressive External Ophthalmoplegia 46 0.079
33
HPT070 Hepatosplenic T-Cell Lymphoma 38 0.079
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