Phenotype #0000325679

Individual ID	00435492
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., no complications pregnancy/delivery, Cesarian section for breech presentation; birth 37w; language/speech delay, 24m-first words; motor delay, 24m-first steps; mild intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; uses psychiatric drugs, successively Risperidone methyphenydate, atomoxétine; sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebellar mild cortical atrophy; joint hypermobility; no syndactyly; kyphosis; unilateral varus foot, clinodactyly 5th finger, short hands; no pectus excavatum; hypotelorism short philtrum,round nasal tip, high nasal bridge, deep set elanguage/speech delay, brachycephaly; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; congenital hip dislocation
Inheritance	Isolated (sporadic)
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