Phenotype #0000325687

Individual ID	00435500
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., infection near end of pregnancy; birth 32w; language/speech delay, 6m-first words, 24m-phrases/sentences; no motor delay, 15-16m-first steps; learning difficulties; autism spectrum disorder; anxiety, aggression; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; regression, 8m-loss of words; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility knees; no syndactyly; no vertebral abnormalities; abnormalities hand/foot/finger (PIP joints prominent); no pectus excavatum; slight chest asymmetry; macrocephaly thin upper lip; no lip/cleft palate; myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; asthma in childhood, inguinal hernias; <3y-hospitalized 4-5X per year; 6m-bilateral inguinal hernia repair
Inheritance	Familial
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

Global Variome shared LOVD