Phenotype #0000295641

Individual ID 00402880
Associated disease OPDM
Diagnosis/Initial oculopharyngodistal myopathy
Diagnosis/Definite OPDM
Phenotype details see paper; ..., 14y-drooping eyelids, gradually developed limited eye movement; 31y-weakness finger extension; >36y-developed dysarthria, weakness distal lower limbs; 46y-high-arched palate, external ophthalmoplegia, facial weakness, wasting both lower limbs and distal upper limbs, absent deep tendon reflexes , no sensory deficit
Inheritance Unknown
Age/Examination 46y (46 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-02-13 16:55:54 +01:00 (CET)
Date last edited N/A

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