Phenotype #0000326311

Individual ID 00436127
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details see paper; ..., L2 hemivertebra; sacral vertebral anomalies; 11 pairs of ribs; Tetralogy of Fallot with complete atrioventricular canal and pulmonary stenosis; persistent LSVC and left pulmonary artery arising from the ductus arteriosus; clinodactyly of digits 2 and 5 with short middle phalanges on the right hand, clinodactyly of the 5th digit on the left hand, overlapping 1st and 2nd toes; mild facial dysmorphism (bitemporal narrowing, epicanthic folds and a flat nasal bridge, absent tragi of the ears)
Inheritance Familial, autosomal recessive
Age/Examination -
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 2023-08-11 14:41:13 +02:00 (CEST)
Date last edited N/A

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