Global Variome shared LOVD

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Phenotype #0000350349 Individual ID 00464286 Associated disease ? Diagnosis/Initial facial dysmorphisms Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; tracheostomy; congenital heart disease, ventricular septal defect; short stature; rhizomelic shortening; joint laxity; developmental delay; no autism; no seizure; microcephaly Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-02-28 13:47:37 +01:00 (CET) Date last edited N/A

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