Global Variome shared LOVD

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Phenotype #0000356811 Individual ID 00472002 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith 39w; speech delay, sentences; mild autistic features;; no seizures; oculomotor defect (right lateral muscle); high forehead, pseudo-synophrys, enophtalmy, bitemporal narrowing, thick lips, open mouth; fine skin; flat feet; ultrasound ow grade mitral insuffciency; ECG normal; normal ultrasound; scoliosis Inheritance Isolated (sporadic) Age/Examination 14y (14 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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