Entry Search - 254800 601145 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '254800 601145 (Search in: MIM number)'
Results: 2 entries.

1:
* 601145. CYSTATIN B; CSTB
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:43,773,950-43,776,308
Matching terms: 601145
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
21q22.3 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 AR 3
ICD+
SNOMEDCT: 230423006

2:
# 254800. MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
Cytogenetic location: 21q22.3
Matching terms: 254800
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
21q22.3 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 AR 3 CSTB 601145
ICD+
SNOMEDCT: 230423006
ORPHA: 308
DO: 0111452
Search: 254800 601145 (Search in: MIM number)
Results: 2 entries.

1:
* 601145. CYSTATIN B; CSTB
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:43,773,950-43,776,308
Matching terms: 601145

2:
# 254800. MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
Cytogenetic location: 21q22.3
Matching terms: 254800