Global Variome shared LOVD

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Phenotype #0000367337 Individual ID 00484548 Associated disease ALS2 Phenotype details marked intellectual disability, cognitive impairment, mild microcephaly, and spasticity of both upper and lower limbs; language impairment, delayed milestones, bilateral foot drop, dysarthria, swallowing difficulties Diagnosis/Initial amyotrophic lateral sclerosis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 20y (20 years) Age/Diagnosis 20y Age/Onset - Phenotype/Onset - Protein - Owner name Atta Ur Rehman Database submission license No license selected Created by Atta Ur Rehman Date created 2026-09-08 10:16:03 +02:00 (CEST) Date last edited 2026-09-08 18:26:05 +02:00 (CEST)

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