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
Created by	Johan den Dunnen
Date created	2024-05-03 10:10:03 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD