Search results for "BSCL2"

18 hits were found for 'BSCL2'

# Family MCID Name MIFTS Score
1
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 17 9.258
2
c SPS027 Spastic Paraplegia 17 34 8.229
3
LPD010 Lipodystrophy 58 7.607
4
BRR012 Berardinelli-Seip Congenital Lipodystrophy 50 6.433
5
P CNG095 Congenital Generalized Lipodystrophy Type 2 58 5.621
6
c CNG012 Congenital Generalized Lipodystrophy 52 5.419
7
P INS005 Insulin Resistance 64 5.204
8
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 10 5.204
9
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 26 4.249
10
c DST003 Distal Hereditary Motor Neuropathy 30 3.197
11
c DST022 Distal Hereditary Motor Neuropathy Type V 23 3.064
12
MND007 Mandibuloacral Dysplasia 62 3.005
13
AXN001 Axonal Neuropathy 36 3.005
14
ATS010 Autosomal Recessive Disease 32 3.005
15
GRS004 Gars-Associated Axonal Neuropathy 15 3.005
16
NRP001 Neuropathy 61 0.263
17
c DBT009 Diabetes Mellitus 73 0.093
18
c CNG094 Congenital Generalized Lipodystrophy Type 1 26 0.093