Phenotype #0000323990
| Individual ID |
00433547 |
| Associated disease |
microcephaly |
| Diagnosis/Initial |
microcephaly |
| Diagnosis/Definite |
MCPH5 |
| Phenotype details |
microcephaly; shy, drawn; 12m-walk; talks in two-word phrases, can name familiar objects, follows two- to three-step instructions; no reading or writing skills; can partly take care of self; sloping forehead, narrow bifrontal diameter |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
04y (4 years) |
| 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 |
2023-03-11 20:09:41 +01:00 (CET) |
| Date last edited |
N/A |
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