Intellectual developmental disorder, autosomal recessive 58
| Disorder | |
|---|---|
| OMIM #: | #617270 (Click to access OMIM database) |
| Disorder: | Intellectual developmental disorder, autosomal recessive 58 |
| Also known as: | MRT58 |
| Clinical | |
| Phenotype: | developmental delay, motor delay, hyperreflexia, spasticity, stereotyped behaviour, aggressive behaviour, choreoathetosis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | ELP2 |
| Base Change: | G>A, at nucleotide 1580 |
| Amino Acid Change: | arg 527 --> gln |
| Last updated: | 2023-02-02 |
| 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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