Jalili syndrome
| Disorder | |
|---|---|
| OMIM #: | #217080 (Click to access OMIM database) |
| Disorder: | Jalili syndrome |
| Also known as: | |
| Clinical | |
| Phenotype: | cone-rod dystrophy, early-onset childhood retinal dystrophy, photophobia, nystagmus, optic atrophy, acrhomatopsia, amelogenesis imperfecta |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CNNM4 |
| Base Change: | C>T, at nucleotide 1813 |
| Amino Acid Change: | arg 605 --> term |
| Last updated: | 2022-11-05 |
| References |
|---|
| Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI. (2018) Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. Mol Genet Genomics Jun;293(3):699-710. PubMed ID: 29322253 |
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