Phenotype #0000242394

Individual ID 00320420
Associated disease ?
Diagnosis/Initial global developmental delay
Diagnosis/Definite -
Phenotype details ventricular septal defect, patent foramen ovale, persistent left superior vena cava, dilated coronary sinus; facial dysmorphism; global developmental delay; microcephaly; short stature; no eye abnormalities; no genitourinary abnormalities
Inheritance Familial, autosomal recessive
Age/Examination 23m
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 2020-11-29 14:31:42 +01:00 (CET)
Date last edited N/A

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