Global Variome shared LOVD

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Phenotype #0000352881 Individual ID 00467729 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., mild developmental delay; 13m-walk; 2y-first words; speech few words; no autism spectrum disorder; hyperphagia, hypersomnia; 16m-1 seizure; bitemporal constriction, large eyebrows, epicanthus bilateral, facial hypertrichosis; normal extremities; postnatal growth retardation, 2y-growth curve inflection; constipation and diarrhea Inheritance Unknown Age/Examination 2y (2 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 2025-10-29 10:02:21 +01:00 (CET) Date last edited N/A

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