Global Variome shared LOVD

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

Phenotype #0000358665 Individual ID 00473870 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details Developmental delay; No speech; Chewing difficulty; Drooling; Muscle weakness; Cerebellar atrophy; Cerebral palsy (CP); Urine organic acid: slight elevation of lactic acid and elevated 3-hydroxybutyric acid; Anemia. Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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