Phenotype #0000061061
Individual ID |
00081459 |
Associated disease |
CRMCC |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Initial |
- |
Age/Examination |
- |
Diagnosis/Definite |
- |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Phenotype details |
intrauterine growth retardation, intracranial calcification in a distribution typical of CP, leukoencephalopathy, retinal exudates typical of CP; sparse hair (1), 3y-fractures (1), 3y-GI ectasias (1) |
Protein |
- |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-10-14 17:15:33 +02:00 (CEST) |
Date last edited |
2016-10-14 17:16:17 +02:00 (CEST) |
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