Phenotype #0000257269

Individual ID	00361876
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., no abnormalities during pregnancy; normal delivery; birth 38w+5; profound intellectual disability; developmental delay; motor delay, unable to rolling-over; speech delay, babbling only; dysarthria, babbling only; epilepsy, tonic seizures, focal impaired awareness seizures; EEG abnormal; hypotonia; no spasticity; ataxia, unable to rolling-over; hand clapping, fingersucking; no sleep disturbances; 3m-MRI brain normal, 3y-slight atrophy; no regression; thick eyebrows, thick lips; no dental/oral abnormalities; drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no hypermobility joints; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms; normal serum alkaline phosphatase levels
Inheritance	Isolated (sporadic)
Age/Examination	12y (12 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