Phenotype #0000323863
| Individual ID |
00433342 |
| Associated disease |
microcephaly |
| Diagnosis/Initial |
primary microcephaly |
| Diagnosis/Definite |
- |
| Phenotype details |
primary microcephaly; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern; birth OFC (SD-3.5), weigth (SD-0.5), length (SD-1); OFC (SD-6.5), weigth (SD-1), length (SD-0.5); no epilepsy; SON‐IQ50 (5y) (SON‐R); MRI simplified pattern |
| Inheritance |
Familial, autosomal recessive |
| 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 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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