Phenotype #0000311152

Individual ID	00419883
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	CSS10
Phenotype details	birth 40w; no IUGR; no failure to thrive; no hypotonia; global developmental delay; gross motor delay; fine motor delay; 9m-sit; >18 m-walk; speech delay; borderline intellectual disability IQ82; behavioral problems; hyperactivity/ADHD; no anxiety; on ADHD medication; occasional sleep issues; no microcephaly; no seizures; 3y-myopia; no strabismus; normal hearing; facial dysmorphism, high anterior hairline, slight upslant, full orbital ridge, cupid's bow and full lower lip, retrognathia; broad neck; bilateral 5th finger clinodactyly and brachydactyly of fingers and toes; 1.5m-perimembranous ventricular septal defect; no atrial septal defect; no patent foramen; widened aortic root with asymmetric tricuspid aortic valve; no gastrointestinal findings; no genitourinary findings
Inheritance	Unknown
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