Disease #05265 (MRRSDC;LGMD2Y (dystrophy, dystrophy, autosomal recessive, with rigid spine and distal joint contractures), OMIM:617072)

Official abbreviation MRRSDC;LGMD2Y
Name dystrophy, dystrophy, autosomal recessive, with rigid spine and distal joint contractures
OMIM ID 617072
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 TOR1AIP1
Associated tissues -
Disease features -
Remarks -
Date created 2017-05-05 14:22:21 +02:00 (CEST)
Date last edited 2026-03-11 21:42:24 +01:00 (CET)


Individuals

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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 - - - - - MRRSDC;LGMD2Y 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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