Search results for "[genes] BSCL2"

22 hits were found for '[genes] BSCL2'

# Family MCID Name MIFTS Score
1
P LPD010 Lipodystrophy 45 25.749
2
c CNG012 Congenital Generalized Lipodystrophy 33 21.959
3
BRR012 Berardinelli-Seip Congenital Lipodystrophy 38 20.541
4
c SPS027 Spastic Paraplegia 17 28 20.541
5
MTR014 Motor Neuron Disease 49 17.360
6
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 35 15.527
7
P DBT085 Diabetes Mellitus, Insulin-Dependent 82 13.447
8
P FML012 Familial Partial Lipodystrophy 42 13.447
9
c DST022 Distal Hereditary Motor Neuropathy Type V 28 13.447
10
P DST003 Distal Hereditary Motor Neuropathy 28 13.447
11
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 13 13.447
12
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 10 13.447
13
MND007 Mandibuloacral Dysplasia 54 10.980
14
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 48 10.980
15
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 28 10.980
16
MTR013 Motor Neuritis 23 10.980
17
SLV005 Silver Spastic Paraplegia Syndrome 23 10.980
18
c ACQ043 Acquired Lipodystrophy 20 10.980
19
GRS004 Gars-Associated Axonal Neuropathy 14 10.980
20
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 84 7.764
21
c CHR531 Charcot-Marie-Tooth Disease, Type 2d 34 7.764
22
SVR059 Severe Neurodegenerative Syndrome with Lipodystrophy 7 7.764