Disease #05265

Official abbreviation LGMD-2Y
Name dystrophy, muscular, limb-girdle, type Y (LGMD-2Y)
OMIM ID 617072
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene TOR1AIP1
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Individuals

1 entry on 1 page. Showing entry 1.
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00103987 24856141-Fam PubMed: Kayman-Kurekci 2014, Journal: Kayman-Kurekci 2014 4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs F;M yes Turkey - - 0 - - LGMD-2Y see paper; ..., proximal/distal weakness/atrophy, rigid spine, contractures proximal/distal interphalangeal hand joints, cardiomyopathy, respiratory involvement TOR1AIP1 TOR1AIP1 1 3 Johan den Dunnen
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