Phenotype #0000352869

Individual ID	00467703
Associated disease	DD
Phenotype details	see paper; ..., global developmental delay, cognitive dysfunction, failure to thrive, intra-uterine growth restriction, difficulty in feeding, febrile seizure, behavior problems characterized by obsessive-compulsive disorder, mild to moderate hearing loss, moderate intellectual disability with low adaptive functioning; triangular face, broad nose, flat and wide nasal bridge, malar hypoplasia, short philtrum, full lips, macrostomia, widely spaced teeth, widely spaced eyes, prominent and wide nasal tip, long face, thick lips; MRI brain normal; normal ECG and ECHO
Diagnosis/Initial	global developmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ALAZS
Age/Examination	17y (17 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 16:16:31 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD