Phenotype #0000352870

Individual ID	00467704
Associated disease	DD
Phenotype details	see paper; ..., global developmental delay, attention deficit disorder, cognitive dysfunction, failure to thrive, IUGR, growth retardation; no seizures; intra-uterine growth restriction; triangular face, prominent forehead, broad nose, flat and wide nasal bridge, prominent and wide nasal tip, malar hypoplasia, short philtrum, full lips, macrostomia, widely spaced teeth, synophrys, widely spaced eyes, long face, thick lips; MRI brain normal; ECHO non-stenotic bi-commissural aortic valve, dilated left ventricle
Diagnosis/Initial	global developmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ALAZS
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-27 16:21:08 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD