Global Variome shared LOVD

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Phenotype #0000338877 Individual ID 00449706 Associated disease BLM Phenotype details see paper; ..., prenatal-onset growth restriction; café-au-lait macules; mild developmental delay (expressive speech delay); no cancer; no decreased subcutaneous fat; gastroesophageal reflux; no diabetes mellitus; no recurrent infections; no malar rash; ECG normal; postnatally, weight, height and OFC significantly reduced Diagnosis/Initial Bloom Syndrome-like Inheritance Familial, autosomal recessive Diagnosis/Definite MGRISCE2 Age/Examination 19m 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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