Phenotype #0000325707

Individual ID	00435520
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDCFSA
Phenotype details	see paper; ..., pregnancy polyhydramnios, elective c-section; birth 39/40w; language/speech delay, 18m-first words; motor delay, 27m-first steps; intellectual disability; no autism spectrum disorder; behavior problems; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet with broad base but otherwise normal gait; 0.5cm bony prominence at level of xiphoid process (no pectus deformity); strawberry neavus was present at back of neck with no other skin lesions or freckling; frontal bossing with deep-set elanguage/speech delay and low-set posteriorly-rotated ears.; 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
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 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