Global Variome shared LOVD

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Phenotype #0000242398 Individual ID 00320424 Associated disease ? Diagnosis/Initial global developmental delay Diagnosis/Definite - Phenotype details no congenital heart disease; facial dysmorphism; global developmental delay; microcephaly; borderline short stature; no central nervous system abnormality; strabismus; dilated renal collecting system, TUB, hypospadias Inheritance Familial, autosomal recessive Age/Examination 18y (18 years) 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 2020-11-29 14:31:42 +01:00 (CET) Date last edited N/A

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