Phenotype #0000352871

Individual ID	00467705
Associated disease	DD
Phenotype details	see paper; ..., jaundice, cephalohematoma, failure to thrive, global developmental delay, behavioral problems, intoeing gait, disordered sleep (nocturnal awakenings, moderate sleep fragmentation), chronic otitis media, ADHD, anxiety, autism spectrum disorder, gastroesophageal reflux disease, intellectual disability, constipation, urinary incontinence, hyperreflexia in the arms and legs, lordosis of the lumbar region, sacral asymmetry, scoliosis, back pain, spasticity in the lower extremities, pain at back of head, growth retardation (weight 2nd percentile, height <1st percentile); no seizures; intra-uterine growth restriction; prominent forehead, deep-set eyes, low-set ears, a broad nose, a large mouth, widely spaced teeth, long philtrum, thin upper lip.
Diagnosis/Initial	global developmental delay
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	ALAZS
Age/Examination	13y (13 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 16:24:25 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD