Disease #05652 (LGMDR23 (dystrophy, muscular, limb-girdle, autosomal recessive, type 23 (LGMDR-23)), OMIM:618138)

Official abbreviation LGMDR23
Name dystrophy, muscular, limb-girdle, autosomal recessive, type 23 (LGMDR-23)
OMIM ID 618138
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene LAMA2
Associated tissues -
Disease features -
Remarks autosomal recessive


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00301610 - - compound heterozygous patient M - Greece - 39y - - - LGMDR23 - LAMA2 LAMA2 2 1 Helen Latsoudis
00416905 203300 - - F no Yugoslavia - - - - - LGMDR23 Elevated circulating creatine kinase concentration, Proximal muscle weakness, Hyporeflexia, Seizure; (CK elevation as incidental finding in clarification after seizure, differential diagnosis aspiration event/bolus event. Values between 800 and 1000 U/L, mild proximal muscle weakness, hypo-/reflexia.) LAMA2 LAMA2 2 1 Andreas Laner
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