Global Variome shared LOVD

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Phenotype #0000346137 Individual ID 00457678 Associated disease LCHADD Phenotype details see paper; ..., newborn screening: hypoglycemia; failure to thrive; muscle pain; retinitis pigmentosa; mother pregnancy preeclampsia Diagnosis/Initial newborn screening Inheritance Familial, autosomal recessive Diagnosis/Definite LCHADD Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 05y Phenotype/Onset hypoglycemia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-15 22:30:25 +01:00 (CET) Date last edited N/A

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