Phenotype #0000337356

Individual ID 00448141
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details height -2.1SD; severe developmental delay/intellectual disability; delayed walking; no speech; dysmorphic facial features; skeletal anomalies hands, feet, palate; severe dilated cardiomyopathy; partial anomalous pulmonary venous return repaired, atrial septal defect; normal muscle tone; no seizures; autism spectrum disorder; visual anomalies
Inheritance Familial, autosomal dominant
Age/Examination 17y (17 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 2024-02-18 13:47:08 +01:00 (CET)
Date last edited N/A

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