Phenotype #0000025696

Individual ID 00029685
Associated disease POIKTMP
Phenotype details Photodistributed poikiloderma, eczematous lesions of the hands and feet, alopecia, heat intolerance, hypohidrosis. Progressive muscle weakness and tendon contractures of both feet. Myogenic pattern of the lower limbs (by EMG), diffuse fatty infiltration of skeletal muscle (by MRI).
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 00y01m (1 month)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Sébastien Küry
Database submission license No license selected
Created by Sébastien Küry
Date created 2015-01-27 15:09:04 +01:00 (CET)
Date last edited N/A

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