Phenotype #0000242680

Individual ID	00324099
Associated disease	NDD
Diagnosis/Initial	developmental delay/intellectual disability
Diagnosis/Definite	-
Phenotype details	developmental delay/intellectual disability; autism spectrum disorder; no developmental regression; motor stereotypies; no sleep disturbance; no hypotonia; no oral motor hypotonia; feeding difficulties; epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; chronic constipation; no horseshoe kidney; no radioulnar synostosis; scoliosis; joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-11-30 17:48:48 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD