|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.
|
28378817 |
2017 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.
|
28378817 |
2017 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
|
26843564 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.
|
26843564 |
2016 |
|
Myoclonic Epilepsies, Progressive
|
|
0.700 |
CausalMutation
|
CLINVAR |
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
|
23205931 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
|
23205931 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
|
22154554 |
2012 |
|
Unverricht-Lundborg Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
|
23205931 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
|
23205931 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene.
|
22154554 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
|
21757863 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
|
21757863 |
2011 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical picture of EPM1-Unverricht-Lundborg disease.
|
18325013 |
2008 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical picture of EPM1-Unverricht-Lundborg disease.
|
18325013 |
2008 |
|
Unverricht-Lundborg Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
|
17003839 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Long-term evolution of EEG in Unverricht-Lundborg disease.
|
17158032 |
2007 |
|
Myoclonic Epilepsies, Progressive
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
|
17003839 |
2007 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Long-term evolution of EEG in Unverricht-Lundborg disease.
|
17158032 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.
|
12058102 |
2002 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study.
|
12058102 |
2002 |
|
Myoclonic Epilepsies, Progressive
|
|
0.700 |
CausalMutation
|
CLINVAR |
G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.
|
9360639 |
1997 |
|
Myoclonic Epilepsies, Progressive
|
|
0.700 |
CausalMutation
|
CLINVAR |
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
|
9054946 |
1997 |
|
Myoclonic Epilepsies, Progressive
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
|
9012407 |
1997 |
|
Unverricht-Lundborg Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene.
|
9360639 |
1997 |
|
Unverricht-Lundborg Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
|
8596935 |
1996 |