Phenotype #0000325692

Individual ID	00435505
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., complicated delivery, Apgar 2/5, neonatal intensive care unit 15 days; birth 39w; language/speech delay, no words, only syllabes; motor delay, 18m-first steps; no autism spectrum disorder; agitation,agressivity; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; neonatal hypotonia; no dystonia; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; large nose; no lip/cleft palate; normal hearing; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; left pyelic duplicity; no cryptorchidism
Inheritance	Isolated (sporadic)
Age/Examination	4y (4 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

Global Variome shared LOVD