| Term Name: | Mendez-Johnson immunoneurologic syndrome |
|---|---|
| Synonyms: | |
| Definition: | A syndrome characterized by failure to thrive with poor overall growth and additional highly variable features including immune dysregulation and neurologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the RNU6ATAC gene on chromosome 9q34. |
| Ontology: | Human Disease [DOID:0070749] ( DOID:0070749 ) |