Phenotype #0000230427

Individual ID	00303350
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., during pregnancy increased nuchal transluscency; normal delivery; birth 42w; intellectual disability (IQ <50); developmental delay; motor delay; speech delay; epilepsy, 4m-prolonged intractable generalized epilepsy and status epilepticus, started on multidrug therapy, remained on Topamax, now for the last 3 months seizure free without any anti-epileptic drug; hypotonia; no spasticity; no ataxia; autism spectrum disorder; no sleep disturbances; MRI brain within normal limits; no regression; small mouth, straight eyebrows; suspected enamel issues: already broken tooth without a trauma; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; no gastrointestinal abnormalities; no urogenital abnormalities; no endocrine/metabolic abnormalities; no immunological abnormalities; normal skin, normal hair, normal nails; no neoplasms
Inheritance	Isolated (sporadic)
Age/Examination	02y (2 years)
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 17:14:50 +02:00 (CEST)