Global Variome shared LOVD

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Phenotype #0000357289 Individual ID 00472479 Associated disease NDD Diagnosis/Initial congenital lactic acidosis Diagnosis/Definite CHOCNS Phenotype details see paper; ..., no prenatal anomalies; no neonatal aproblems; normal growth; fine motor developmental delay; no intellectual disability; autism (Asperger); no behavioral problems; 18m-walk; normal speech; no hypotonia; no seizures; MRI brain intraparenchymal hemorrhage secondary to arteriovenous malformation; no visual anomalies; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; no history of easy bruising, coagulation and blood count tests were normal; asthma in infancy, recurrent laryngitis; no dysmorphic features Inheritance Isolated (sporadic) Age/Examination 14y (14 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 2026-02-18 11:04:57 +01:00 (CET) Date last edited N/A

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