Pelizaeus-Merzbacher-like syndrome
| Disorder | |
|---|---|
| OMIM #: | #608804 (Click to access OMIM database) |
| Disorder: | Pelizaeus-Merzbacher-like syndrome |
| Also known as: | LEUKODYSTROPHY, HYPOMYELINATING, 2, HLD2 |
| Clinical | |
| Phenotype: | nystagmus, ataxia, hypotonia, choreoathetosis, developmental delay, motor delay, tremors, head titubation, hypomyelinating leukodystrophy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | GJA12 |
| Base Change: | A>G, at nucleotide 203 |
| Amino Acid Change: | tyr 68 --> cys |
| Last updated: | 2022-11-11 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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