Phenotype #0000326336

Individual ID	00436155
Associated disease	?
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	psychomotor delay; motor delay; speech delay; intellectual disability; severe developmental delay; facial dysmorphism; microcephaly; hypotonia; dysarthria; epilepsy; 1y-onset focal seizure; EEG focal discharges, slowing of background activity; MRI brain white matter involvement, subcortical abnormalities, no corpus callosum hypoplasia, optic chiasm hypoplasia, no ventricular enlargement, no gyration defects
Inheritance	Familial, autosomal dominant
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Marcello Scala
Database submission license
Created by	Marcello Scala
Date created	2023-08-29 17:00:28 +02:00 (CEST)
Date last edited	2024-02-21 18:23:56 +01:00 (CET)

Global Variome shared LOVD