Phenotype #0000257260

Individual ID	00361867
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., no abnormalities during pregnancy; normal delivery; learning difficulties; developmental delay; motor delay, mild, walked at 18m; speech delay; no dysarthria; no epilepsy; EEG normal; no hypotonia; no spasticity; no ataxia; anxiety, autism spectrum disorder; no sleep disturbances; no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; drooling; recurrent otitis media; no vision abnormalities; cardiac ultrasound normal; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological testing performed, no clinical suspicion, not prone to infections; normal skin, normal hair, normal nails; no neoplasms
Inheritance	Unknown
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-11 17:48:18 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD