Search results for "[genes] BSCL2"

16 hits were found for '[genes] BSCL2'

# Family MCID Name MIFTS Score
1
LPD010 Lipodystrophy 49 27.754
2
BRR012 Berardinelli-Seip Congenital Lipodystrophy 43 24.035
3
c SPS027 Spastic Paraplegia 17 26 24.035
4
c CNG012 Congenital Generalized Lipodystrophy 43 19.625
5
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 8 19.625
6
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 23 17.915
7
SLV005 Silver Spastic Paraplegia Syndrome 14 17.915
8
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 16.024
9
c DST022 Distal Hereditary Motor Neuropathy Type V 28 13.877
10
MND007 Mandibuloacral Dysplasia 57 11.330
11
P AXN001 Axonal Neuropathy 32 11.330
12
P DST003 Distal Hereditary Motor Neuropathy 28 11.330
13
ATS010 Autosomal Recessive Disease 27 11.330
14
GRS004 Gars-Associated Axonal Neuropathy 13 11.330
15
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 10 8.012
16
SVR059 Severe Neurodegenerative Syndrome with Lipodystrophy 7 8.012