Conditions / Syndrome
Mendez-Johnson immunoneurologic syndrome
info · Syndrome
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 g
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.
Signs and symptoms
- Hyperopic astigmatism
- Strabismus
- Recurrent lower respiratory tract infections
- Short stature
- Type I diabetes mellitus
- Nystagmus
- Thyroiditis
- Sepsis
- Postnatal growth retardation
- Epiphyseal dysplasia