Phenotype #0000267851

Individual ID 00372537
Associated disease MD
Phenotype details onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy lower limbs; no facial weakness; ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; mild intellectual disability; normal CK; EMG normal; Wolff-Parkinson-White syndrome (ablation)
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 45y (45 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-09 13:06:47 +02:00 (CEST)
Date last edited N/A

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