Search results for "BSCL2"

19 hits were found for 'BSCL2'

# Family MCID Name MIFTS Score
1
SVR059 Severe Neurodegenerative Syndrome with Lipodystrophy 7 7.811
2
LPD010 Lipodystrophy 49 7.454
3
BRR012 Berardinelli-Seip Congenital Lipodystrophy 43 6.405
4
c SPS027 Spastic Paraplegia 17 26 6.275
5
c CNG012 Congenital Generalized Lipodystrophy 43 5.310
6
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 8 5.099
7
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 4.764
8
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 23 4.694
9
SLV005 Silver Spastic Paraplegia Syndrome 14 4.694
10
c DST022 Distal Hereditary Motor Neuropathy Type V 28 3.698
11
P DST003 Distal Hereditary Motor Neuropathy 28 3.169
12
MND007 Mandibuloacral Dysplasia 57 2.944
13
P AXN001 Axonal Neuropathy 32 2.944
14
ATS010 Autosomal Recessive Disease 27 2.944
15
GRS004 Gars-Associated Axonal Neuropathy 13 2.944
16
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 10 2.307
17
P NRP001 Neuropathy 52 0.258
18
P OST012 Osteoarthritis 80 0.091
19
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 25 0.091