Search results for "BSCL2"

19 hits were found for 'BSCL2'

# Family MCID Name MIFTS Score
1
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 14 9.206
2
c SPS027 Spastic Paraplegia 17 31 8.897
3
LPD010 Lipodystrophy 59 7.509
4
c CNG012 Congenital Generalized Lipodystrophy 53 6.475
5
BRR012 Berardinelli-Seip Congenital Lipodystrophy 51 6.349
6
P CNG095 Congenital Generalized Lipodystrophy Type 2 58 5.548
7
P INS005 Insulin Resistance 65 5.136
8
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 10 5.136
9
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 24 4.689
10
c DST022 Distal Hereditary Motor Neuropathy Type V 24 3.681
11
c DST003 Distal Hereditary Motor Neuropathy 31 3.156
12
MND007 Mandibuloacral Dysplasia 61 2.966
13
AXN001 Axonal Neuropathy 36 2.966
14
c ATS010 Autosomal Recessive Disease 33 2.966
15
GRS004 Gars-Associated Axonal Neuropathy 16 2.966
16
P DST007 Distal Spinal Muscular Atrophy, Type V 25 2.097
17
NRP001 Neuropathy 62 0.260
18
c DBT009 Diabetes Mellitus 74 0.092
19
c CNG094 Congenital Generalized Lipodystrophy Type 1 22 0.092