Lowe syndrome
| Disorder | |
|---|---|
| OMIM #: | #309000 (Click to access OMIM database) |
| Disorder: | Lowe syndrome |
| Also known as: | LOWE OCULOCEREBRORENAL SYNDROME OCRL1 PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY |
| Clinical | |
| Phenotype: | hydrophthalmia, cataract, glaucoma, decreased visual acuity, corneal keloid, joint hypermobility, rickets, other skeletal defects, developmental delay, hypotonia, ventriculomegaly, amino aciduria, reduced ammonia production by the kidney, renal Fanconi syndrome, renal failure |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | OCRL |
| Base Change: | G>T, at nucleotide 1621 |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Personal communication; seen at CSC. |
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