Global Variome shared LOVD

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Phenotype #0000352573 Individual ID 00467366 Associated disease SHFYNG Phenotype details acc. Patak-31397880 arthrogryposis, hypomimia, high nasal bridge, micrognathia, bitemporal narrowing, high palate, prominent chin, low-set ears, epicanthic fold, club foot, respiratory distress, poor suck, open mouth, developmental delay, autism spectrum disorder, psychomotor delay, short stature Diagnosis/Initial Schaaf‐Yang syndrome Inheritance Isolated (sporadic) Diagnosis/Definite SHFYNG Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-12 16:28:54 +02:00 (CEST) Date last edited N/A

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