Phenotype #0000323854

Individual ID 00433333
Associated disease microcephaly
Diagnosis/Initial primary microcephaly
Diagnosis/Definite -
Phenotype details primary microcephaly, progressive spasticity; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles; birth OFC (SD-3.5), weigth (SD-2.5), length (SD-2.5); OFC (SD-5), weigth (SD-2.5), length (SD-3.5); 10m-generalized, tonic‐clonic, atonic, treatment VPA and LTG; severe intellectual disability (95m-BS intellectual disability‐III 5m; 8y-no words); MRI agenesis corpus callosum, enlarged lateral ventricles
Inheritance Familial, autosomal recessive
Age/Examination 5y2m (5 years, 2 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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