Phenotype #0000334377

Individual ID 00445124
Associated disease ?
Diagnosis/Initial oculofaciocardiodental syndrome
Diagnosis/Definite MCOPS2
Phenotype details congenital cataract, microphthalmia ptosis; septate nasal cartilage ,high nasal bridge ,long/narrow face ,simple ears; not cardiac anomalies delayed dentition ,root radiculomegaly ,hypodontia ,fusion of teeth; nmild mental retardation ,
Inheritance Isolated (sporadic)
Age/Examination 14y (14 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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