Knobloch syndrome
| Disorder | |
|---|---|
| OMIM #: | #267750 (Click to access OMIM database) |
| Disorder: | Knobloch syndrome |
| Also known as: | KNO RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE |
| Clinical | |
| Phenotype: | high myopia, cataracts, dislocated lens, vitreoretinal degeneration, retinal detachment, other ocular abnormalities, occipital skull defects, occipital encephalocele, occipital dermal sinus tract |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | COL18A1 |
| Base Change: | c.3522_3523delCT |
| Amino Acid Change: | p.Leu1175Valfs*72 |
| Last updated: | 2022-12-07 |
| References |
|---|
| Personal communication; seen at CSC. |
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