Search results for "[genes] FA2H"

20 hits were found for '[genes] FA2H'

# Family MCID Name MIFTS Score
1
c SPS153 Spastic Paraplegia 35, Autosomal Recessive 34 24.780
2
P LKD001 Leukodystrophy 59 19.195
3
PRP016 Paraplegia 49 17.522
4
c SPS054 Spastic Paraplegia 35 19 17.522
5
P DYS154 Dystonia 65 15.672
6
P NRD007 Neurodegeneration with Brain Iron Accumulation 46 15.672
7
SPS019 Spastic Paraparesis 41 15.672
8
P SJG002 Sjogren-Larsson Syndrome 50 13.573
9
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 47 13.573
10
ACR006 Aceruloplasminemia 45 13.573
11
CRB033 Cerebral Degeneration 44 13.573
12
SNG007 Sengers Syndrome 41 13.573
13
INF129 Infantile Cerebellar-Retinal Degeneration 33 13.573
14
c OPT055 Optic Atrophy Plus Syndrome 52 11.082
15
c INF069 Infantile Neuroaxonal Dystrophy 1 43 11.082
16
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 40 11.082
17
c LKD010 Leukodystrophy, Hypomyelinating, 2 40 11.082
18
c NRD008 Neurodegeneration with Brain Iron Accumulation 3 39 11.082
19
c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 32 11.082
20
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 31 11.082