Phenotype #0000356348

Individual ID	00471541
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	see paper; ..., moderate global developmental dealy (HP:0001263); gross motor delay (HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), mild malar hypoplasia, overfolded pinnae with flattened helix, mild epicanthus, small chin; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250)
Inheritance	Isolated (sporadic)
Age/Examination	5y2m (5 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-12-27 15:29:46 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD