Search results for "[genes] BSCL2"

21 hits were found for '[genes] BSCL2'

# Family MCID Name MIFTS Score
1
P LPD010 Lipodystrophy 52 23.322
2
c CNG012 Congenital Generalized Lipodystrophy 45 21.988
3
c SPS027 Spastic Paraplegia 17 23 20.568
4
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 23 19.042
5
MTR014 Motor Neuron Disease 59 17.383
6
BRR012 Berardinelli-Seip Congenital Lipodystrophy 30 17.383
7
c HRD010 Hereditary Spastic Paraplegia 65 15.548
8
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 32 15.548
9
c DST022 Distal Hereditary Motor Neuropathy Type V 26 15.548
10
SLV005 Silver Spastic Paraplegia Syndrome 24 15.548
11
P FML012 Familial Partial Lipodystrophy 51 13.465
12
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 47 13.465
13
ATS010 Autosomal Recessive Disease 41 13.465
14
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 24 13.465
15
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 8 13.465
16
NRP015 Neuropathy, Congenital Hypomyelinating 56 10.994
17
MND007 Mandibuloacral Dysplasia 49 10.994
18
OSM001 Osmotic Diarrhea 29 10.994
19
P DST003 Distal Hereditary Motor Neuropathy 23 10.994
20
GRS004 Gars-Associated Axonal Neuropathy 12 10.994
21
c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 36 7.774