Phenotype #0000334361

Individual ID 00445108
Associated disease ?
Diagnosis/Initial oculofaciocardiodental syndrome
Diagnosis/Definite MCOPS2
Phenotype details congenital cataract, microphthalmia; septate nasal cartilage; ventricular septal defect, patent ductus arteriosus, mitral valve insufficiency, dextrocardia; persistant primary teeth, unerupted secondary teeth, root radiculomegaly, hypodontia; hammer toes; hearing impairment
Inheritance Familial, autosomal recessive
Age/Examination 23y (23 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-01-02 21:05:38 +01:00 (CET)
Date last edited N/A

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