Phenotype #0000173142

Individual ID 00230584
Associated disease UCMD
Phenotype details Motor delay (HP:0001270); Proximal muscle weakness (HP:0003701); Joint laxity (HP:0001388); Generalised hypotonia (HP:0001290); Hyperextensibility of wrists (HP:0005072); Elevated serum creatine kinase (HP:0003236); EMG:myopathic abnormalities (HP:0003458); Talipes equinovarus (HP:0001762); no follicular hyperkeratosis (-HP:0007502); no flexion contracture (-HP:0001371)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Ullrich congenital muscular dystrophy-1
Age/Examination 11y (11 years)
Age/Diagnosis 11y
Age/Onset 02y
Phenotype/Onset -
Protein -
Owner name Nirmala Sirisena
Database submission license No license selected
Created by Nirmala Sirisena
Date created 2019-04-19 15:12:01 +02:00 (CEST)
Date last edited 2019-04-19 16:12:49 +02:00 (CEST)

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