Phenotype #0000325724

Individual ID	00435537
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., birth 41w; language/speech delay, 48m-first words; no motor delay, 11m-first steps; no autism spectrum disorder; hyperactivity; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances, uses melatonine; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; 3y10m-MRI brain normal; joint hypermobility; no syndactyly; no pectus excavatum; midface hypoplasia, sparse in eyebrow, deeply set elanguage/speech delay, wide, short nose, short philtrum, wide mouth, everted lips, anteverted nares; no lip/cleft palate; hypermetropia; 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	Unknown
Age/Examination	8y11m (8 years, 11 months)
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