Term Name: | Jalili syndrome |
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Synonyms: | Cone rod dystrophy-amelogenesis imperfecta syndrome, cone-rod dystrophy and amelogenesis imperfecta |
Definition: | 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. |
Ontology: | Human Disease [DOID:0111404] ( DOID:0111404 ) |