Phenotype #0000311168

Individual ID	00419899
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 40w; no IUGR; failure to thrive; picky eating, weight loss; hypotonia; global developmental delay; gross motor delay; fine motor delay; 10-11m-sit; 36m-walk; speech delay, 11m-first words; intellectual disability, IQ not formally assessed by neuropsychologist; behavioral problems; no hyperactivity/ADHD; no anxiety; no microcephaly; MRI brain normal; EEG normal; headaches with emesis 2-3 days a week; Prescribed glasses, presumably because of myopia; no strabismus; normal hearing; broad forehead, small palpebral fissures, triangular face with pointed chin, low-set and posteriorly rotated ears; skin lesions (tags vs nevi); 5y-poor dentition with pulpectomy and crowns; slender fingers with broader thumbs and halluxes, prominent heels; no ventricular septal defect; no atrial septal defect; no patent foramen; no vascular anomalies; no gastrointestinal findings; no genitourinary findings
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-24 18:06:51 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD