Hypomyelinating leukodystrophy 2
| Disorder | |
|---|---|
| OMIM #: | #608804 (Click to access OMIM database) |
| Disorder: | Hypomyelinating leukodystrophy 2 |
| Also known as: | PELIZAEUS-MERZBACHER-LIKE DISEASE, 1 PMLD1 |
| Clinical | |
| Phenotype: | leukodystrophy, motor delay, poor head/trunk control, head titration, hypotonia, ataxia, spasticity, rigidity, choreoathetosis, developmental delay, cerebral atrophy, demyelination, optic atrophy |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | GJC2 |
| Base Change: | A>G, at nucleotide 203 |
| Amino Acid Change: | tyr 68 --> cys |
| Last updated: | 2023-01-03 |
| References |
|---|
| Crowgey EL, Washburn MC, Kolb EA, Puffenberger EG. (2019) Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania. J Mol Diagn Jul;21(4):687-694. PubMed ID: 31028937 |
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