Phenotype #0000337355

Individual ID	00448140
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	height -0.94SD; mild developmental delay/intellectual disability; delayed walking; speech delay, mixed receptive-expressive language disorder; dysmorphic facial features; skeletal anomalies hands; dilated cardiomyopathy, cardiac transplantation; normal muscle tone; no seizures; attention deficit/hyperactivity disorder
Inheritance	Familial, autosomal dominant
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-18 13:47:08 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD