Phenotype #0000323867

Individual ID	00433346
Associated disease	microcephaly
Diagnosis/Initial	primary microcephaly
Diagnosis/Definite	-
Phenotype details	primary microcephaly; birth OFC (SD-3.5), weigth (SD-1), length (SD-2); OFC (SD-6), weigth median, length (SD-1); no epilepsy; severe intellectual disability (45y-began to speak, 12y-not able to wash herself, recognizes some letters, count to 5); MRI small cerebellum hemispheres; birth OFC (SD-3.5), weigth (SD-1), length (SD-2); OFC (SD-6), weigth median, length (SD-1); no epilepsy; severe intellectual disability (45y-began to speak, 12y-not able to wash herself, recognizes some letters, count to 5); MRI small cerebellum hemispheres
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 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