Phenotype #0000333609

Individual ID 00444356
Associated disease MCOP
Phenotype details see paper; ..., 4 anophthalmia/7 microphthalmia, 9 obligate carriers; atrial septal defect (1/11); cerebral aneurysm (1/11); 10/11 inherited from asymptomatic mother
Diagnosis/Initial anophthalmia
Inheritance Familial, autosomal dominant
Diagnosis/Definite MCOPCB10
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2023-12-22 19:48:13 +01:00 (CET)
Date last edited N/A

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