Phenotype #0000357855

Individual ID 00473060
Associated disease ALS
Phenotype details onset 41y with lower muscle weakness, lumbar pain & cramp due to neuropathy; Fasciculations; Hand tremor; Generalized muscle weakness, lower & upper limbs; Difficulty walking and rising from seated position; EDX: compatible with motor neuron disease.
Diagnosis/Initial amyotrophic lateral sclerosis
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 47y (47 years)
Age/Diagnosis -
Age/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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