Epidermolysis Bullosa Simplex with Muscular Dystrophy

Alternative Names

  • EBS-MD
  • Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy
  • MD-EBS
  • MDEBS

Associated Genes

Plectin
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

226670

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q24.3

Description

Epidermolysis bullosa simplex with muscular dystrophy is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
226670.1.1LebanonFemaleNoYes Abnormal blistering of the skin; Respi...NM_000445.5:c.5258insGHomozygousAutosomal, RecessiveSchara et al. 2004
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