Phenotype #0000125665

Individual ID 00152722
Associated disease ALS
Phenotype details atrophy in arms and distal lower extremities and paravertebral muscles, asymmetric weakness all extremities, brisk tendon reflexes, bilateral Wartenberg sign, left Babinski sign, fasciculations, bulbar symptoms (uvula deviation to right and left palatal arch weakness); 44y-ambulant
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 44y (44 years)
Age/Diagnosis -
Age/Onset 35y
Phenotype/Onset -
Protein -
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 2018-02-09 09:39:36 +01:00 (CET)
Date last edited N/A

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