Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000300414 Individual ID 00408289 Associated disease EBSMD Phenotype details 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 Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Nailah Harvey Database submission license No license selected Created by Nailah Harvey Date created 2022-04-19 21:25:48 +02:00 (CEST) Date last edited 2022-04-20 11:05:26 +02:00 (CEST)

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