Phenotype #0000231371

Individual ID	00305522
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w, weight 2863 (normal), OFC 34.9 (normal); height 147.5 (<-2 SD), weight 42.5 (<-2 SD), OFC normal; intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit hyperactivity disorder/autism spectrum disorder/anxiety, bipolar disorder, obsessive compulsive disorder; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; dysphagia/feeding difficulties; no pulmomal abnormalities; Food and environmental allergies; no endocrine abnormalities; Possible segmentation anomaly of C2-C3; no hearing abnormalities; no vision abnormalities; Birth mark lower back (tanned, slightly depressed, 4x0.8cm), multiple additional teeth ; Short 4th metacarpal L; MRI-brain no holoprosencephaly, Arachnoid cysts
Inheritance	Isolated (sporadic)
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	2020-06-28 10:52:31 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD