Phenotype #0000325756

Individual ID	00435569
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., no complications pregnancy/delivery; birth 39w; 12m-first words; motor delay, 18m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; 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; high forehead; no lip/cleft palate; hypermetropia; no strabismus; photophobia; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; keratosis pilaris;
Inheritance	Familial
Age/Examination	10y (10 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