Phenotype #0000323869

Individual ID	00433348
Associated disease	microcephaly
Diagnosis/Initial	primary microcephaly
Diagnosis/Definite	-
Phenotype details	severe primary microcephaly, short stature; OFC (SD-8), weigth (SD-2), length (SD-3.5); 24y-generalized, tonic‐clonic, treatment LEV, TPM, and CBZ; mild/moderate intellectual disability; MRI slight cerebral and cerebellar atrophy, agenesis corpus callosum, colpocephaly; OFC (SD-8), weigth (SD-2), length (SD-3.5); 24y-generalized, tonic‐clonic, treatment LEV, TPM, and CBZ; mild/moderate intellectual disability; MRI slight cerebral and cerebellar atrophy, agenesis corpus callosum, colpocephaly
Inheritance	Familial, autosomal recessive
Age/Examination	19y (19 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