Phenotype #0000257267

Individual ID	00361874
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., no abnormalities during pregnancy; normal delivery; mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; generalized hypotonia; no spasticity; no ataxia; agitated, difficulties to concentrate; lot of movement in sleep; MRI brain normal; no regression; no other neurological abnormalities; no facial dysmorphisms; malformed teeth; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; toe syndactyly left foot digII/III, short fingers; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; obesity; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels (232 U/L)
Inheritance	Familial, autosomal dominant
Age/Examination	5y10m (5 years, 10 months)
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