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 4
Phenotype entries for this disease 4
Associated with 1 gene GBE1
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00329114 - - - M no Belgium white - - - - APBN Proximal myopathy (biopsy proven) Hepatopathy - GBE1 2 1 Jonathan De Winter
00415292 A:II:A - Index case family A (Antwerp) M no Belgium White >57y - - - APBN Leukodystrophy, spinal cord atrophy, peripheral neuropathy, myopathy - GBE1 2 2 Jonathan De Winter
00415299 B:II:A - - M no Belgium white >58y - - - APBN Leukodystrophy, spinal cord atrophy, pure motor axonal neuropathy, myopathy - GBE1 2 1 Jonathan De Winter
00415302 C:II:A - - M no Belgium White >73y - - - APBN Leukodystrophy, spinal cord atrophy, sensorimotor peripheral neuropathy - GBE1 2 1 Jonathan De Winter
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