Phenotype #0000334374

Individual ID	00445121
Associated disease	?
Diagnosis/Initial	oculofaciocardiodental syndrome
Diagnosis/Definite	MCOPS2
Phenotype details	27y/27y/1y6m; congenital cataract, microphthalmia; septate nasal cartilage (1, 2), high nasal bridge (1, 2), long/narrow face (1, 2), not affected (3); atrial septal defect (3), ventricular septal defect (1), not affected (2); delayed primary dentition (3), delayed dentition (1, 2), persistent primary teeth (1, 2), root radiculomegaly (1, 2); second-third toe syndactyly, radioulnar synostosis (2), scoliosis (2)
Inheritance	Familial, autosomal dominant
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	2024-01-02 21:05:38 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD