Aicardi-Goutieres syndrome 6
| Disorder | |
|---|---|
| OMIM #: | #615010 (Click to access OMIM database) |
| Disorder: | Aicardi-Goutieres syndrome 6 |
| Also known as: | AGS6 |
| Clinical | |
| Phenotype: | microcephaly, nystagmus, sever developmental delay, tremors, stiffness, rigidity, dystonia, loss of speech, inability to walk, bilateral striatal necrosis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | ADAR |
| Base Change: | C>G, at nucleotide 577 |
| Amino Acid Change: | |
| 2 Old Order Mennonite | |
| Gene: | ADAR |
| Base Change: | ins.T, at nucleotide 296 |
| Amino Acid Change: | |
| Last updated: | 2023-02-01 |
| References |
|---|
| Personal communication; seen at CSC. |
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