Phenotype #0000357179

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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