Phenotype #0000300417

Individual ID 00408291
Associated disease EBMD
Phenotype details Cutaneous: skin blistering
Oropharyngeal: dental caries, hoarseness
Musculoskeletal: Proximal muscle weakness: 4 out of 5, distal muscle weakness: 4 out of 5, ptosis, lower limbs spasticity, severe motor delay: sitting at age 2.5, speech delay
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
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 21:44:22 +02:00 (CEST)
Date last edited 2022-04-20 11:14:07 +02:00 (CEST)

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