Search results for "[genes] BSCL2"

21 hits were found for '[genes] BSCL2'

# Family MCID Name MIFTS Score
1
P LPD010 Lipodystrophy 43 23.437
2
c CNG012 Congenital Generalized Lipodystrophy 37 20.670
3
c SPS027 Spastic Paraplegia 17 23 20.670
4
MTR014 Motor Neuron Disease 48 17.469
5
BRR012 Berardinelli-Seip Congenital Lipodystrophy 30 17.469
6
c HRD010 Hereditary Spastic Paraplegia 62 15.625
7
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 35 15.625
8
P FML012 Familial Partial Lipodystrophy 46 13.531
9
ATS010 Autosomal Recessive Disease 34 13.531
10
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 29 13.531
11
c DST022 Distal Hereditary Motor Neuropathy Type V 27 13.531
12
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 9 13.531
13
MND007 Mandibuloacral Dysplasia 53 11.048
14
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 47 11.048
15
ADP001 Adiposis Dolorosa 45 11.048
16
NRP015 Neuropathy, Congenital Hypomyelinating 42 11.048
17
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 29 11.048
18
PGM003 Pigmentation Disease 24 11.048
19
SLV005 Silver Spastic Paraplegia Syndrome 22 11.048
20
GRS004 Gars-Associated Axonal Neuropathy 13 11.048
21
SVR059 Severe Neurodegenerative Syndrome with Lipodystrophy 7 7.812