This website provides information on patients with mutations in the HS6ST2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the gene is a multisystem disorder characterized by:

Core clinical features
•    Global developmental delay / neurodevelopmental impairment
•    Intellectual disability or evolving cognitive impairment
•    Seizures and/or EEG abnormalities
•    Brain imaging abnormalities (mild ventriculomegaly and/or cerebral white matter/atrophic changes)
•    Mild, non-specific facial dysmorphism

Variable associated features
•    High myopia / visual impairment
•    Feeding difficulties
•    Metabolic abnormalities (elevated lactate / altered glucose metabolism)
•    Liver function abnormalities

Not all individuals with a mutation in the HS6ST2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the HS6ST2 gene.

Monica Miozzo, PhD, Università degli Studi di Milano, Santi Paolo e Carlo Hospital, Milano, Italy, monica.miozzo@unimi.it
Donatella Milani, MD, IRCCS Fondazione Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy, Donatella.milani@policlinico.mi.it
Giulia Cagnoli, MD, Santi Paolo e Carlo Hospital, Milano, Italy, giulia.cagnoli@asst-santipaolocarlo.it
Laura Fontana, PhD, Università degli Studi di Milano, Santi Paolo e Carlo Hospital, Milano, Italy, laura.fontana@unimi.it
Leda Paganini, PhD, ASST Cremona Hospital, Cremona, Italy, leda.paganini@hotmail.it