Phenotype #0000338876

Individual ID 00449705
Associated disease BLM
Phenotype details see paper; ..., prenatal-onset growth restriction; elevated sister chromatid exchange; no cafĂ©-au-lait macules; no developmental delay; no cancer; no decreased subcutaneous fat; no gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; dilated cardiomyopathy (after heart transplant); mitochondrial DNA depletion muscle (0.87); hearing loss, combined malonic and methylmalonic aciduria; postnatally, weight, height and OFC significantly reduced
Diagnosis/Initial Bloom Syndrome-like
Inheritance Familial, autosomal recessive
Diagnosis/Definite MGRISCE2
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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