Disease #01953

Official abbreviation -
Name epilepsy, myoclonic, of Lafora
OMIM ID 254780
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 2 genes EPM2A, NHLRC1
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00301461 LFR1 - - - no Italy - - 0 - - epilepsy, myoclonic, of Lafora Epilepsy myoclonic of Lafora EPM2A, NHLRC1 EPM2A 1 1 Pietro Palumbo
00303262 LFR2 - - M no Italy - 13y 0 - - epilepsy, myoclonic, of Lafora - EPM2A, NHLRC1 EPM2A 2 1 Pietro Palumbo
00303263 LFR3 - - M no Italy - 14y - - - epilepsy, myoclonic, of Lafora - EPM2A, NHLRC1 NHLRC1 1 1 Pietro Palumbo
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