Disease #02025 (APBN (polyglucosan body disease, adult (APBN)), OMIM:263570)

Official abbreviation APBN
Name polyglucosan body disease, adult (APBN)
OMIM ID 263570
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GBE1
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00329114 - - - M no Belgium white - - - - APBN Proximal myopathy (biopsy proven) Hepatopathy - GBE1 2 1 Jonathan De Winter
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