Phenotype #0000352841

Individual ID	00467629
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	ALAZS
Phenotype details	see paper; ..., neurological disorder, multiple congenital anomalies; neuromotor developmental delay, severe learning disability, seizure, microcephaly, autistic behaviors, pulmonary stenosis, hyperkeratosis; MRI corpus callosum agenesis, distinct vascular structures, venous angioma; pulmonary stenosis
Inheritance	Familial, autosomal recessive
Age/Examination	6y9m (6 years, 9 months)
Age/Diagnosis	-
Age/Onset	7m
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