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New disorder: neurooculocardiogenitourinary syndrome (NOCGUS) #215

Open Orphanet-ES opened 1 month ago

Orphanet-ES commented 1 month ago

Dear all,

A Spanish coder suggests the creation of a specific ORPHAcode for neurooculocardiogenitourinary syndrome (NOCGUS), a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. NOCGUS is caused by heterozygous mutation in the WDR37 gene (618586) on chromosome 10p15.

These are the references that he has provided me: https://omim.org/entry/618652 https://www.sciencedirect.com/science/article/abs/pii/S0387760423001778 https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.62020

Kind regards,

María Elena

Orphanet-MartaFructuoso commented 1 month ago

Dear @Orphanet-ES, Thank you for your message. We will evaluate the creation of the ORPHAcode and inform you of the decision following the Medical and Scientific Committee meeting in September 2024. Best regards, Marta