Term Name: Jalili syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome