Global Variome shared LOVD

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Phenotype #0000325785 Individual ID 00435600 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., normal pregnancy, birth birth at term; 3y6m-first words; <2y6m-walk; 4y-can speak in sentences (received significant speech therapy); moderate intellectual disability; delayed gross motor skills; delayed fine motor skills; no seizures; hypotonia; no movement disorder; happy demeanor, poor concentration; rare apnea, sleep study, no intervention recommended; round face, cleft palate, small hands and feet, deep-set eyes, thin upper lip, smooth philtrum, slightly downslanting palpebral fissures; normal eyes/vision; middle ear disease, recurrent ear infections; no feeding problems, required G-tube; ear infections; joint laxity Inheritance Isolated (sporadic) Age/Examination 4y (4 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 2023-08-05 19:25:13 +02:00 (CEST) Date last edited N/A

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