What disease

Orlando suffers from a deletion in the 2p16.3 region of the NRXN1 gene, found through Array-CGH genetic analysis.

Although such deletion involves an intronic region of the gene, i.e. the part that doesn’t encode the gene proteins, Orlando shows a clinical picture similar to the phenotype found in patients suffering from the same deletion but in esonic regions, encoding proteins of the same gene: hypotonia , psychomotor and linguistic retardation.

Contacts

Email: info@occhiazzurrionlus.org

Operational headquarters:
Via Cappelletti 3 - 26100 Cremona (CR) Italy
Tel.: +39 0372 178 6698

President: Filippo
Tel.: +39 366 564 5847

Vice Presidente: Silvia
Tel.: +39 328 875 8435