Phenotype #0000230415

Individual ID	00303338
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., no abnormalities during pregnancy; normal delivery; birth 37w; developmental delay; motor delay, no head control at 0;7y; epilepsy, 1m-tonic seizures, pharmacoresistant; EEG abnormal, tonic seizures recorded; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; 0.3y-MRI brain normal; no regression; poor visual contact, hypoglycorachia in october 2019 (2.29 mmol/l) glycémia 4.9 mmol/l, blood/CSF= 0.46, GLUT1 mutations were excluded; facial dysmorphisms; 1y-no teeth; no drooling, dysphagia; no hearing abnormalities; possibly, evaluation ongoing, delayed visual development, but normal ophthalmologic examination; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; abdominal ultrasound normal; no urogenital abnormalities; no endocrine/metabolic abnormalities; susceptibility to viral infections; normal skin, normal hair, normal nails; no neoplasms
Inheritance	Isolated (sporadic)
Age/Examination	00y05m (5 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 14:17:38 +02:00 (CEST)

Global Variome shared LOVD