Disease #00009

Official abbreviation EPM-1A
Name epilepsy, myoclonic, progressive, type 1A (EPM-1A, Unverricht and Lundborg)
OMIM ID 254800
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 8
Associated with 1 gene CSTB
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00001503 - - - M - - - - - - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORP, USH-3B ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00092276 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - United States - - 0 - - EPM-1A CSTB CSTB 1 2 Johan den Dunnen
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