Phenotype #0000332788

Individual ID	00443446
Associated disease	?
Diagnosis/Initial	lissencephaly, megalencephaly
Diagnosis/Definite	MRT34
Phenotype details	see paper, ..., height 176.5 cm (-0.3SD), weight 67 kg (-0.6SD), OFC 59.7 cm (+2SD), mild megalencephaly; mild intellectual disability; 2 generalized tonic-clonic seizures at time of papilloma diagnosis, no recurrence, no treatment after surgery; 8y-atypical choroid plexus papilloma, WHO grade 2
Inheritance	Familial, autosomal recessive
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-27 09:52:50 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD