Phenotype #0000323882

Individual ID 00433361
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly, axial hypotonia, visual abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities
Inheritance Unknown
Age/Examination 4y6m (4 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-03-06 14:23:39 +01:00 (CET)
Date last edited N/A

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