Search results for "[genes] BSCL2"

24 hits were found for '[genes] BSCL2'

# Family MCID Name MIFTS Score
1
P LPD010 Lipodystrophy 55 22.986
2
c CNG012 Congenital Generalized Lipodystrophy 44 20.271
3
BRR012 Berardinelli-Seip Congenital Lipodystrophy 37 18.768
4
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 18.768
5
SLV005 Silver Spastic Paraplegia Syndrome 32 18.768
6
c SPS027 Spastic Paraplegia 17 23 18.768
7
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 23 18.768
8
MTR014 Motor Neuron Disease 58 17.132
9
PRP016 Paraplegia 49 17.132
10
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 24 17.132
11
c HRD010 Hereditary Spastic Paraplegia 67 15.324
12
P FML012 Familial Partial Lipodystrophy 52 15.324
13
ATS010 Autosomal Recessive Disease 41 15.324
14
P AXN001 Axonal Neuropathy 38 15.324
15
c DST022 Distal Hereditary Motor Neuropathy Type V 25 15.324
16
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 8 15.324
17
NRP015 Neuropathy, Congenital Hypomyelinating 52 13.271
18
MND007 Mandibuloacral Dysplasia 49 13.271
19
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 49 13.271
20
OSM001 Osmotic Diarrhea 28 13.271
21
P DST003 Distal Hereditary Motor Neuropathy 25 13.271
22
GRS004 Gars-Associated Axonal Neuropathy 12 13.271
23
c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 36 10.835
24
c CHR374 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 31 10.835