Disease #00069 (LD (Lafora disease), OMIM:254780)

Official abbreviation LD
Name Lafora disease
OMIM ID 254780
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease -
Associated with 1 gene EPM2A
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00000450 Sow Kuan Tee et al. (2019) M Malaysia Malay - - - LD - EPM2A EPM2A 1 1 Nur Aisyah Athirah
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