Phenotype #0000279491

Individual ID 00385436
Associated disease CHTD
Phenotype details centrovalvular insufficiency of aortic and pulmonic valve; no developmental dealy; microcephaly; no intra‐uterine growth retardation; post‐natal growth retardation; phimosis; high forehead; almond‐shaped, upslanting palpebral fissures; midface hypoplasia; micrognathia; large, normally placed ears
Diagnosis/Initial congenital heart defect
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
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 2021-10-11 14:59:36 +02:00 (CEST)
Date last edited N/A

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