Phenotype #0000236630

Individual ID	00311383
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth weight normal, length normal; normal height, normal weight, OFC 2.05; developmental delay/intellectual disability; gross motor delay, fine motor delay; speech delay, 2y-first words; poor socialization, attention deficit hyperactivity disorder; hypotonia; no sleep problems; no hearing loss; abnormal eye convergence, saccadic eye movements, congenital entropion; no musculoskeletal anomalies; normal skin; normal face, frontal bossing, normal eyes, normal ears, normal nose, thin upper lip; no gastrointestinal problems; MRI brain Chiari Type 1 malformation, flattening of anterior pituitary; ECG patent foramen ovale, dilated aortic root (z-score=2.4); EKG RV conduction delay; mother is “low functioning”, father has intellectual disability
Inheritance	Isolated (sporadic)
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-24 16:15:46 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD