Disease #01775 (EBSMD (epidermolysa bullosa simplex, with muscular dystrophy (EBSMD)), OMIM:226670)

Official abbreviation EBSMD
Name epidermolysa bullosa simplex, with muscular dystrophy (EBSMD)
OMIM ID 226670
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 PLEC
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2020-11-11 10:28:48 +01:00 (CET)


Individuals

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00408289 - - Also has Myasthenia Syndrome F - Iran - - - - - EBSMD Cutaneous: skin blistering, nail dystrophy, alopecia Oropharyngeal: enamel hypoplasia, hoarseness, recurrent choking, required laryngotomy at age 7 due to ulcer in larynx Musculoskeletal: Proximal muscle weakness: 4 out of 5, distal muscle weakness: 4 out of 5, ptosis (left worse than right) Respiratory: admissions due to respiratory problems Cardiac: None PLEC PLEC 1 1 Nailah Harvey
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