Phenotype #0000342229

Individual ID 00453571
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., no brain phneotype; no intellectual disability; no developmental delay; no hypotonia; no seizures; no motor problems; atrial septal defect; adrenal insufficiency, no neurodevelopmental findings, hypertension at birth
Inheritance Familial, autosomal dominant
Age/Examination 2y9m (2 years, 9 months)
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 2024-09-10 17:46:49 +02:00 (CEST)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.