Phenotype #0000323887

Individual ID	00433366
Associated disease	microcephaly
Diagnosis/Initial	primary microcephaly
Diagnosis/Definite	-
Phenotype details	primary microcephaly; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal; birth OFC (SD+0.5); OFC (SD-2.5), weigth (SD+1.5), length (SD+1.5); 12y-combined generalized and focal, tonic‐clonic seizures, and non‐motor focal seizures, partially controlled with 3 drugs; borderline intellectual disability; MRI normal
Inheritance	Familial, autosomal recessive
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	2023-03-06 14:23:39 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD