Phenotype #0000311166

Individual ID	00419897
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth 35w; no IUGR; no failure to thrive; hypotonia; global developmental delay; gross motor delay; fine motor delay; 20m-walk; speech delay, 22m-first words; mild intellectual disability; no behavioral problems; no hyperactivity/ADHD; no anxiety; sleep issues, obstructive sleep apnea, restless leg; no microcephaly; MRI brain mild posterior periventricular and subcortical white matter, signal abnormality that could represent gliosis, normal imaging; no seizures; EEG normal; concern for seizures, routine EEG normal, workup ongoing; exotropia; glasses full time; normal hearing; broad forehead, downslanting palpebral fissures, pointed chin, low-set posteriorly rotated ears; normal hands/feet; no ventricular septal defect; no atrial septal defect; no patent foramen; bicuspid aortic valve and mild aortic dilation; 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