Phenotype #0000236641

Individual ID	00311394
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth weight normal; normal height, OFC -1.33; developmental delay/intellectual disability, DQ 53; gross motor delay, fine motor delay, n/a; speech delay; autism, no attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; no musculoskeletal anomalies; normal skin; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; myoclonus epilepsy under control with valproate, levetiracetam
Inheritance	Isolated (sporadic)
Age/Examination	2y8m (2 years, 8 months)
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