Aicardi-Goutieres syndrome 6
Disorder | |
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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 |
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Personal communication; seen at CSC. |
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