Phenotype #0000311157

Individual ID	00419888
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	CSS10
Phenotype details	birth 38w; IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 10m-sit; 15m-walk; speech delay, 18m-first words; intellectual disability; behavioral problems; no hyperactivity/ADHD; no anxiety; breath-holding spells; no microcephaly; MRI brain dysgenesis of corpus callosum and bilateral semicircular canals; no seizures; no myopia; no strabismus; Mild low frequency hearing loss; no facial dysmorphism; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; pressure equalizing tubes in place
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-24 18:06:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD