Global Variome shared LOVD

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Phenotype #0000335917 Individual ID 00446715 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., birth close to term; no respiratory distress; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; no sketelal anomalies; no limb malformation; no seizures, EEG normal; no delayed motor development; moderate intellectual disability; speech delay, very few words; poor eye contact; ASD, ADHD; no ophthalmological problems; no hearing problems; upslanted eyes, epicanthus; normal shape face; normal chin; nose broad nasal tip and base; tented upper lip, everted lower lip; widely spaced teeth; ears low-set; no hair/skin/nail anomalies Inheritance Unknown Age/Examination - 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 2024-01-22 13:14:03 +01:00 (CET) Date last edited N/A

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