Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000325651 Individual ID 00435460 Associated disease SPG35 Phenotype details Strabismus, Ataxia, Gait disturbance, Muscle weakness, Myoclonus, Brisk reflexes, Gait imbalance, Skeletal muscle atrophy, Myalgia, Babinski sign, Myoclonic spasms, Pontocerebellar atrophy, Hypoplasia of the pons, Low levels of vitamin D Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-07-28 12:03:46 +02:00 (CEST) Date last edited 2023-07-31 10:47:03 +02:00 (CEST)

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