Phenotype #0000323860

Individual ID	00433339
Associated disease	microcephaly
Diagnosis/Initial	primary microcephaly
Diagnosis/Definite	-
Phenotype details	primary microcephaly; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal; birth OFC (SD-2), weigth (SDNA), length (SD2); OFC (SD-3.5), weigth (SD+1.5), length (SD-1); 14y-combined generalized and focal (first tonic‐clonic seizures, later non‐motor focal and atonic seizures), refractory ‐ daily seizures and nearly all drugs tried; moderate intellectual disability (IQ around 50); MRI normal
Inheritance	Familial, autosomal recessive
Age/Examination	15y (15 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