Phenotype #0000317235

Individual ID	00426071
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth OFC 31.8 (-2.2); 5y6m-deceased; severe global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; 2m-seizures; EEG multifocal epileptiform discharges; cortical visual impairment; gastrostomy; no prominent metopic suture; wide nasal bridge; pronounced cupids bow; no large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia
Inheritance	Familial, autosomal recessive
Age/Examination	4y10m (4 years, 10 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-27 14:10:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD