Phenotype #0000308052

Individual ID	00416285
Associated disease	del 1p36
Diagnosis/Initial	1p36 deletion syndrome
Diagnosis/Definite	-
Phenotype details	developmental delay, intellectual diability, feeding difficulty; mild pulmonary valve stenosis; sensorineural hearing loss; brachycephaly, flat occiput, mid-face retrusion, long eyelashes, prominent ear helix, flat nose, wide nasal bridge, hypoplastic philtrum, thin upper lip vermilion, abonormal mouth, broad thumbs, short phalanges, coarse hair, abnormal hair pattern, low posterior hairline; laryngomalacia, recurrent infections, cryptorchidism, proportionate short stature
Inheritance	Isolated (sporadic)
Age/Examination	19y (19 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