Global Variome shared LOVD

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Phenotype #0000357301 Individual ID 00472491 Associated disease NDD Diagnosis/Initial congenital lactic acidosis Diagnosis/Definite CHOCNS Phenotype details see paper; ..., intra-uterine growth restriction, oligohydramnios; short stature; developmental delay; autism; attention deficit hyperactivity disorder/attention deficit disorder, mood and behavior problems; 9m-sit; 15m-walk; 4y-speech, sentences; no seizures; wears glasses; cryptorchidism; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; Extremities: wide feet, short and broad fingers epicanthus inversus; wide umbilicus 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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