Human genes for Jalili syndrome
Jalili syndrome [DOID:0111404]
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.
Synonyms: Jalili syndrome, DOID:0111404, Jalili disease, Jalili disorder, Jalili syndromes ...