Global Variome shared LOVD

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Phenotype #0000357179 Individual ID 00472376 Associated disease ? Diagnosis/Initial - Diagnosis/Definite OCNDS Phenotype details see paper; ..., 20m-slow growth, dysmorphic features, global developmental delay, coloboma, congenital hypothyroidism, short stature, hypotonia; 2y9m-mildly elevated CK level (215 unit/L), MRI muscle pelvis/thighs normal 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 2026-02-06 15:57:27 +01:00 (CET) Date last edited N/A

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