Search results for PDSS1

24 hits were found for PDSS1

# Family MCID Name MIFTS Score
1
CNZ007 Coenzyme Q10 Deficiency, Primary, 2 33 6.719
2
c HRD026 Hereditary Ataxia 48 2.790
3
CNZ001 Coenzyme Q10 Deficiency Disease 47 2.346
4
LGH007 Leigh Syndrome 70 1.973
5
P CRD224 Cardiofaciocutaneous Syndrome 1 70 1.973
6
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 68 1.973
7
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61 1.973
8
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 60 1.973
9
LBR030 Leber Optic Atrophy 60 1.973
10
c ALZ056 Alzheimer Disease 3 57 1.973
11
P MTC133 Mitochondrial Myopathy 49 1.973
12
MTC005 Mitochondrial Metabolism Disease 49 1.973
13
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 45 1.973
14
P MTC004 Mitochondrial Encephalomyopathy 44 1.973
15
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 40 1.973
16
CNZ010 Coenzyme Q10 Deficiency, Primary, 7 39 1.973
17
CNZ008 Coenzyme Q10 Deficiency, Primary, 6 33 1.973
18
CNZ004 Coenzyme Q10 Deficiency, Primary, 3 32 1.973
19
c AML018 Amelogenesis Imperfecta, Type Ic 29 1.973
20
MYL080 Myalgic Encephalomyelitis/chronic Fatigue Syndrome 27 1.973
21
P MLN008 Melanoma 69 0.086
22
SKN019 Skin Melanoma 68 0.086
23
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 41 0.086
24
LGH017 Leigh Syndrome with Nephrotic Syndrome 23 0.086
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