Global Variome shared LOVD

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Phenotype #0000243183 Individual ID 00324683 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details 2y-deceased; short stature; developmental delay/intellectual disability; epilepsy; hypotonia; ptosis; no hypothyroidism; no genital anomalies; ventricular septal defect Inheritance Familial, autosomal recessive Age/Examination 1y10m (1 year, 10 months) 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 2020-12-22 19:17:48 +01:00 (CET) Date last edited N/A

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