Phenotype #0000210496

Individual ID	00275897
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	SNIBCPS
Phenotype details	global developmental delay; walk-3y; fine motor delay; first words-4y; speech impaired intelligibility, high pitched voice; not known; intellectual disability (level unknown); mild autistic features; normal weight; normal height; macrocephaly; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; high arched and narrow palate; no neonatal issues; hypermetropia; normal hearing; normal heart;;
Inheritance	Isolated (sporadic)
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-01-20 21:55:37 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD