Global Variome shared LOVD

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Phenotype #0000357298 Individual ID 00472488 Associated disease NDD Diagnosis/Initial congenital lactic acidosis Diagnosis/Definite CHOCNS Phenotype details see paper; ..., prenatal polyhydramnios; no neonatal aproblems; normal growth; developmental delay; intellectual disability; autism; no behavioral problems; 5y-speech; no hypotonia; no seizures; MRI brain septo-optic dysplasia; septo-optic dysplasia, optic atrophy; constipation; no genitourinary anomalies; no cardiovascular anomalies; recurrent otitis media; no history of easy bruising and/or bleeding, coagulation and blood count tests were normal; obstructive sleep apnea; high forehead, broad nasal tip, sparse hair and eyebrows, full cheeks Extremities: Long, thin fingers with ulnar deviation of left middle finger, hyperextension of distal fifth fingers, short fourth and fifth metatarsals, cone-shaped epiphyses chest pectus excavatum Inheritance Unknown Age/Examination 10y (10 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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