Phenotype #0000338715

Individual ID	00449541
Associated disease	NDD
Diagnosis/Initial	developmental delay, intellectual disability, dysmorphic features
Diagnosis/Definite	-
Phenotype details	see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; no psychiatric problems; no hypotonia; staring spells daily lasting 1-2 min; brain MRI/CT intraventricular hemorrhage, small subdural collections; RV tumor, partial atrioventricular septal defect, atrial septal defect, peripheral pulmonary stenosis; no genitourinary anomalies; no gastrointestinal anomalies; upslanting palpebral fissures, bitemporal narrowing, tall forehead, epicanthal folds, flat nasal bridge, short upturned nose, long well-grooved philtrum, cleft chin; pulmonary hypertension
Inheritance	Isolated (sporadic)
Age/Examination	3y3m (3 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-04-22 10:35:23 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD