Search results for kars1

Showing 25 of 57 hits for kars1
# Family MCID Name MIFTS Score
1
c DFN260 Deafness, Autosomal Recessive 89 33 34.219
2
c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 37 31.343
3
DFN389 Deafness, Congenital, and Adult-Onset Progressive Leukoencephalopathy 22 26.573
4
LKN032 Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness 26 26.381
5
P LKD001 Leukodystrophy 59 20.631
6
P SNS001 Sensorineural Hearing Loss 59 17.609
7
P MCR010 Microcephaly 59 16.937
8
P HYP700 Hypomyelinating Leukodystrophy 35 16.650
9
P OPT006 Optic Nerve Disease 58 16.458
10
P LCT001 Lactic Acidosis 51 15.853
11
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 67 11.902
12
P PLY041 Polymyositis 58 11.902
13
P CHR071 Charcot-Marie-Tooth Disease 64 11.782
14
MCR013 Microphthalmia 56 9.910
15
IMM167 Immune Deficiency Disease 79 9.718
16
c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 53 9.718
17
MCR018 Microcytic Anemia 47 9.718
18
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 66 9.718
19
HYP265 Hypotonia 46 8.982
20
P NNS072 Nonsyndromic Hearing Loss 43 8.982
21
NNS044 Non-Syndromic Genetic Deafness 44 8.982
22
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 32 7.522
23
c CTR103 Cataract 4, Multiple Types 47 6.871
24
c LKD015 Leukodystrophy, Hypomyelinating, 3 41 6.871
25
c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 44 6.871
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