Phenotype #0000352913

Individual ID 00467761
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorders
Diagnosis/Definite -
Phenotype details see paper; ..., ventricular septal defect, right-sided aortic arch, vascular ring; acrocephaly, downslanting palpebral fissures, epicanthal folds, telecanthus, deeply set eyes, maxillary hypoplasia, malar hypoplasia, micrognathia, triangular facies, asymmetry, tented lips, high arched palate, small flat teeth; developmental delay; no seizures; father downslanting palpebral fissures
Inheritance Isolated (sporadic)
Age/Examination 6y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-10-29 10:58:33 +01:00 (CET)
Date last edited N/A

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