ATG4D-related syndromic neurodevelopmental disorder

[allenbaron]

A recent study identified a syndromic neurodevelopmental disorder that may be caused by mutations in the ATG4D gene that needs to be added to the DO. This disease doesn't appear to have a name yet. It is essentially a neurological condition characterized by issues with motor coordination and speech.

• Publication: https://www.nature.com/articles/s41525-022-00343-8

[lschriml]

OMIM has the gene record, no associated phenotype record at this time.

[allenbaron]

I requested that OMIM take a look at this publication so that we can get the disease in both resources in sync. I will check the ATG4D record and follow-up in the future.