Global Variome shared LOVD

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Phenotype #0000357297 Individual ID 00472487 Associated disease NDD Diagnosis/Initial congenital lactic acidosis Diagnosis/Definite CHOCNS Phenotype details see paper; ..., reduced fetal movement; neonatal jaundice; overweight; developmental delay; intellectual disability (IQ=80); no autism; overeating, sneaking food; 24m-walk; delayed speech; hypotonia; no seizures; MRI brain normal; amblyopia; no gastrointestinal anomalies; no genitourinary anomalies; no cardiovascular anomalies; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; no dysmorphic features Inheritance Isolated (sporadic) Age/Examination 29y (29 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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