Phenotype #0000324333
Individual ID |
00433955 |
Associated disease |
microcephaly |
Diagnosis/Initial |
microcephaly |
Diagnosis/Definite |
MCPH5 |
Phenotype details |
microcephaly, OFC SD-4 to -8; unable to speak clearly, no self-care ability, no history of seizure, severe intellectual disability, normal motor skills, normal height |
Inheritance |
Familial, autosomal recessive |
Age/Examination |
- |
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 |
2023-03-16 11:51:24 +01:00 (CET) |
Date last edited |
2023-03-16 12:59:56 +01:00 (CET) |
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