Search results for "BSCL2"

18 hits were found for 'BSCL2'

# Family MCID Name MIFTS Score
1
c SPS027 Spastic Paraplegia 17 29 8.219
2
SVR059 Severe Neurodegenerative Syndrome with Lipodystrophy 6 7.884
3
LPD010 Lipodystrophy 59 7.579
4
BRR012 Berardinelli-Seip Congenital Lipodystrophy 48 6.425
5
c CNG012 Congenital Generalized Lipodystrophy 52 5.413
6
P INS005 Insulin Resistance 66 5.198
7
P CNG095 Congenital Generalized Lipodystrophy Type 2 53 5.198
8
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 10 5.198
9
P NRP032 Neuropathy, Distal Hereditary Motor, Type Va 21 4.244
10
c DST003 Distal Hereditary Motor Neuropathy 33 3.193
11
c DST022 Distal Hereditary Motor Neuropathy Type V 24 3.060
12
MND007 Mandibuloacral Dysplasia 60 3.001
13
AXN001 Axonal Neuropathy 36 3.001
14
c ATS010 Autosomal Recessive Disease 32 3.001
15
GRS004 Gars-Associated Axonal Neuropathy 17 3.001
16
NRP001 Neuropathy 61 0.262
17
c DBT009 Diabetes Mellitus 78 0.093
18
c CNG094 Congenital Generalized Lipodystrophy Type 1 23 0.093