A little princess called Gabriela

The story of Gabriela

She is Gabriela, she has 11 months old. Last june she was diagnosed Huppke Brendel syndrome, only 6 cases in the world.
They have decided that they want to do everything possible to give visibility to Gabriela’s syndrome to find the cure. The diagnosis of HBS is established in a proband with characteristic features (bilateral congenital cataracts, hypotonia, sensorineural hearing loss, severe developmental delay, very low serum copper and ceruloplasmin levels) and biallelic (compound heterozygous or homozygous) pathogenic variants in SLC33A1 identified by molecular genetic testing.
All affected individuals died between age ten months and six years. Causes of death included pneumonia, renal failure, and multiorgan failure.
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