Phenotype #0000325755

Individual ID	00435568
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay, 24m-first words; motor delay, 24m-first steps; no intellectual disability, but heterogeneous profile (WISC IV); no autism spectrum disorder; attention deficit; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; vertebral abnormalities; pes planus; no pectus excavatum; mylagia, fatigability, swallowing difficulties; high forehead; no lip/cleft palate; no hypermetropia/myopia; no strabismus; photophobia; normal hearing; recurrent ear infections; noise hypersensibility; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux; constipation; persistant feeding difficulties; no skin hyperlaxity; no genitourinary abnormalities; unilateral cryptorchidism; multiple telangiectasia;
Inheritance	Familial
Age/Examination	7y6m (7 years, 6 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