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 International |
| 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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