Conditions / Syndrome
Jalili syndrome
info · Syndrome
A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.
Signs and symptoms
- Enamel agenesis
- Yellow-brown discoloration of the teeth
- Visual impairment
- Carious teeth
- Nystagmus
- Photophobia
- Monochromacy
- Nyctalopia
- Cone/cone-rod dystrophy
- Macular atrophy
Also known as: Cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy and amelogenesis imperfecta