Phenotype #0000325816

Individual ID	00435632
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; cerebral visual impairment, strabismus, nystagmus ,myopia, astigmatism; hypotonia; MRI brain abnormal white matter signal (T2 prolongation), possible focal dysgyria, cerebral atrophy; prominent metopic ridge, mildly tapered fingers, coxa valga; prominent maxilla/upper lip; micrognathia; long ears
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-06 22:51:48 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD