Global Variome shared LOVD

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Phenotype #0000358598 Individual ID 00473803 Associated disease ? Diagnosis/Initial hypotonia, psychomotor retardation Diagnosis/Definite - Phenotype details Hypotonia; Developmental retardation; Speech difficulty; CDH bilateral; Mild deep set eyes; Muscle biopsy: slight myopathic atrophy of mainly type 1 fibers with no specific structural abnormality; Brain MRI: bilateral cortical atrophy and agenesis of corpus callosum; EMG-NCV: myopathic process; Rectal biopsy: R/O Hirschsprung’s disease; Urine organic acid: slightly elevated lactic acid. Inheritance Unknown Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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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