Poretti-Boltshauser syndrome
| Disorder | |
|---|---|
| OMIM #: | #615960 (Click to access OMIM database) |
| Disorder: | Poretti-Boltshauser syndrome |
| Also known as: | PTBHS |
| Clinical | |
| Phenotype: | cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts, short pons, high myopia, strabismus, variable retinal dystrophy, eye movement abnormalities, motor delay, speech delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | LAMA1 |
| Base Change: | c.8556+1G>A |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| References |
|---|
| Strauss KA, Gonzaga-Jauregui C, Brigatti KW, Williams KB, King AK, Van Hout C, Robinson DL, Young M, Praveen K, Heaps AD, Kuebler M, Baras A, Reid JG, Overton JD, Dewey FE, Jinks RN, Finnegan I, Mellis SJ, Shuldiner AR, Puffenberger EG. (2018) Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med Jan;20(1):31-41. PubMed ID: 28726809 |
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