EPM2A

EPM2

LAFORA DISEASE

MELF1

EPILEPSY, PROGRESSIVE MYOCLONIC, 2A

MELF

LAFORA BODY DISEASE

LBD

LAFORA DISEASE 1

http://purl.bioontology.org/ontology/OMIM/254780

EPM2A

EPM2

LAFORA DISEASE

MELF1

EPILEPSY, PROGRESSIVE MYOCLONIC, 2A

MELF

LAFORA BODY DISEASE

LBD

LAFORA DISEASE 1

C5848203

6q24

EPM2A

MELF2

http://purl.bioontology.org/ontology/OMIM/MTHU010932

http://purl.bioontology.org/ontology/OMIM/MTHU036402

http://purl.bioontology.org/ontology/OMIM/MTHU005307

http://purl.bioontology.org/ontology/OMIM/MTHU010926

http://purl.bioontology.org/ontology/OMIM/MTHU010928

http://purl.bioontology.org/ontology/OMIM/MTHU001331

http://purl.bioontology.org/ontology/OMIM/MTHU010930

http://purl.bioontology.org/ontology/OMIM/MTHU002750

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU000392

http://purl.bioontology.org/ontology/OMIM/MTHU003010

http://purl.bioontology.org/ontology/OMIM/MTHU010929

http://purl.bioontology.org/ontology/OMIM/MTHU002883

http://purl.bioontology.org/ontology/OMIM/MTHU000146

http://purl.bioontology.org/ontology/OMIM/MTHU002910

http://purl.bioontology.org/ontology/OMIM/MTHU036687

http://purl.bioontology.org/ontology/OMIM/MTHU010924

http://purl.bioontology.org/ontology/OMIM/MTHU010925

Phenotype description, molecular basis known.

254780

3

pound

MYOCLONIC EPILEPSY OF LAFORA 1

Caused by mutation in the malin gene (NHLRC1, 608072.0001) [MOLECULAR BASIS]

Rapidly progressive disorder [MISCELLANEOUS]

Patients with mutation in the NHLRC1 gene have slightly longer survival [MISCELLANEOUS]

Genetic heterogeneity [MISCELLANEOUS]

Short survival (less than 10 years after onset) [MISCELLANEOUS]

Onset in late childhood/adolescence (approximately 15 years) [MISCELLANEOUS]

Caused by mutation in the laforin gene (EPM2A, 607566.0001) [MOLECULAR BASIS]

T047