Global Variome shared LOVD

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Phenotype #0000347579 Individual ID 00459501 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC 49th; no short stature; intellectual disability; developmental delay, severe speech delay, no/minimal language, 1y2m-walk, 2y4m-climb, 2y4m-run, fine motor skills treated with occupational therapy; autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; 4 café au lait macules, one irregular in shape, one hypopigmentary macule, skin dicoloration left arm Inheritance Isolated (sporadic) Age/Examination 2.33y 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 2025-01-06 10:01:48 +01:00 (CET) Date last edited N/A

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