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Jalili syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111404
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6P4Q7 | Metal transporter CNNM4 |
