Phenotype #0000308054

Individual ID	00416287
Associated disease	del 1p36
Diagnosis/Initial	1p36 deletion syndrome
Diagnosis/Definite	-
Phenotype details	developmental delay, hypotonia; small septum secundum atrial septal defect, perimembranous ventricular septal defect; dilated cardiomyopathy; frontal and parietal bossing, mild bitemporal narrowing, broad arched eyebrows with sparse appearance, short palpebral fissures, protruding ears, broad nasal bridge, mildly anteverted small nares, broad columella, smooth philtrum, bowed upper lip, high arched palate, prominent chin, short sternum, second and fifth digits with mild bilateral clinodactyly, short digits with mild bulbous finger tips, hirsutism; failure to thrive
Inheritance	Isolated (sporadic)
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-26 10:31:45 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD