Phenotype #0000230665

Individual ID	00303602
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	IDDSADF
Phenotype details	birth 40w, weight 3500 g; no peri/postnatal issues; adult height 173 cm, weight 72 kg, OFC 25 centile; walk-24m; fine and gross motor delay, 10y-able to cycle; ?; speech 3y-first words, developed speech, verbal dyspraxia; unable to read or write, learning level of 6 year old, works in a social employment facility; strabismus, optic nerve atrophy; Deep set eyes, slight hypotelorism; MRI brain normal; tremor left hand, prone to respiratory tract infections, high cholesterol, late puberty
Inheritance	Isolated (sporadic)
Age/Examination	55y (55 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-16 23:30:21 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD