Phenotype #0000325385

Individual ID 00435180
Associated disease NDD
Diagnosis/Initial neurodevelopmental delays, dysmorphic features
Diagnosis/Definite NEDCFSA
Phenotype details see paper; ..., height 45th, weight 45th, OFC 25th; prominent nasal bridge/nose; coarse features; prognathism; prominent forehead; no prominent ears; widened hands; syndactyly; no joint hypermobility; language delays; no motor delays; cognitive impairment; autism spectrum disorder; hypotonia; congenital heart disease (abnormal vena cava in sinus corinarius, annulus of mitralis valve)
Inheritance Isolated (sporadic)
Age/Examination 4y (4 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 2023-06-02 13:45:44 +02:00 (CEST)
Date last edited N/A

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