Phenotype #0000230431

Individual ID	00303354
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; mild intellectual disability; developmental delay, mild; motor delay, mild; speech delay, severe, 6y-no speech; no dysarthria; no epilepsy; 4m-mild, generalized hypotonia; no spasticity; no ataxia; MRI brain normal (infancy); no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; mild constipation; no urogenital abnormalities; No; normal skin, normal hair, normal nails; no neoplasms
Inheritance	Isolated (sporadic)
Age/Examination	08y09m (8 years, 9 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-10 17:04:23 +02:00 (CEST)
Date last edited	2021-04-11 16:44:05 +02:00 (CEST)

Global Variome shared LOVD