Phenotype #0000352840

Individual ID	00467628
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	ALAZS
Phenotype details	see paper; ..., neurological disorder, multiple congenital anomalies; neuromotor developmental delay, severe learning disability, microcephaly, autistic behaviors, pulmonary stenosis, epiphyseal changes in the proximal phalanges, strabismus, tortuous at retinal blood vessels, hyperkeratosis, diabetes mellitus type 2, short stature, pes planus; MRI Arnold chiari malformation type 1; pulmonary stenosis
Inheritance	Familial, autosomal recessive
Age/Examination	16y10m (16 years, 10 months)
Age/Diagnosis	-
Age/Onset	8m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-10-24 22:46:25 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD