Phenotype #0000338879
Individual ID |
00449708 |
Associated disease |
BLM |
Phenotype details |
see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; café-au-lait macules; mild developmental delay; no cancer; decreased subcutaneous fat; no diabetes mellitus; no malar rash; dilated cardiomyopathy (asymptomatic), mild left-ventricle dilatation; postnatally, weight, height and OFC significantly reduced |
Diagnosis/Initial |
Bloom Syndrome-like |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
MGRISCE2 |
Age/Examination |
7y (7 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 |
2024-05-03 10:10:03 +02:00 (CEST) |
Date last edited |
N/A |
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