Phenotype #0000325731

Individual ID	00435544
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., induction of labor at 40 w for reduced fetal movements; birth 40w; no language/speech delay, 48m-first words; no motor delay, 18m-first steps; intellectual disability; autism spectrum disorder; no behavior problems; no use psychiatric drugs; sleep disturbances; seizures/epilepsy, drug resistant epilepsy: general and focal seizures; with currently 1 event per month on oxacarbazepine + clobazam; no hypotonia; no dystonia; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet; no pectus excavatum; prominent forehead, synophrys, deeply sett elanguage/speech delay,wide nose with prominent bridge, wide mouth, thick lips; no lip/cleft palate; hypermetropia; strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;
Inheritance	Isolated (sporadic)
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-03 13:47:25 +02:00 (CEST)
Date last edited	N/A