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 )

Relationships
is a type of: autosomal recessive disease syndrome