Global Variome shared LOVD

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Phenotype #0000250699 Individual ID 00332515 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., progressive developmental delay, lactic acidosis, muscle weakness, hypotonia, weight loss, gastrointestinal and body temperature dysautonomia, repetitive infections, cognitive impairment, autistic behaviour; family members showed variable phenotype presentation Inheritance Familial, X-linked Age/Examination - 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 2021-02-19 17:14:44 +01:00 (CET) Date last edited N/A

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