Phenotype #0000306864

Individual ID	00415063
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., profound developmental delay, no speech, unable to sit; 2m-epileptic spasms, Lennox-Gastaut syndrome; 2y-MRI moderate hyperintensity of periventricular white matter, mild ventriculomegaly; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features
Inheritance	Familial, autosomal dominant
Age/Examination	07y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-06 22:07:04 +02:00 (CEST)
Date last edited	2022-08-08 15:14:47 +02:00 (CEST)

Global Variome shared LOVD