Search results for "[genes] BSCL2"

21 hits were found for '[genes] BSCL2'

# Family MCID Name MIFTS Score
1
P LPD010 Lipodystrophy 53 23.437
2
c CNG012 Congenital Generalized Lipodystrophy 45 20.670
3
c SPS027 Spastic Paraplegia 17 24 20.670
4
MTR014 Motor Neuron Disease 61 17.469
5
BRR012 Berardinelli-Seip Congenital Lipodystrophy 34 17.469
6
c HRD010 Hereditary Spastic Paraplegia 68 15.625
7
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 35 15.625
8
P FML012 Familial Partial Lipodystrophy 49 13.531
9
ATS010 Autosomal Recessive Disease 43 13.531
10
c DST022 Distal Hereditary Motor Neuropathy Type V 26 13.531
11
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 19 13.531
12
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 11 13.531
13
MND007 Mandibuloacral Dysplasia 50 11.048
14
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 48 11.048
15
ADP001 Adiposis Dolorosa 47 11.048
16
NRP015 Neuropathy, Congenital Hypomyelinating 45 11.048
17
PGM003 Pigmentation Disease 41 11.048
18
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 32 11.048
19
SLV005 Silver Spastic Paraplegia Syndrome 25 11.048
20
GRS004 Gars-Associated Axonal Neuropathy 12 11.048
21
SVR059 Severe Neurodegenerative Syndrome with Lipodystrophy 7 7.812