Autosomal Recessive Cerebral Atrophy
| Disorder | |
|---|---|
| OMIM #: | *606565 (Click to access OMIM database) |
| Disorder: | Autosomal Recessive Cerebral Atrophy |
| Also known as: | ARCA syndrome |
| Clinical | |
| Phenotype: | microcephaly, seizures, developmental delay, cerebral atrophy, hypotonia, spasticity |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | TMPRSS4 |
| Base Change: | C>T, at nucleotide 995 |
| Amino Acid Change: | thr 332 --> met |
| Last updated: | 2023-02-02 |
| References |
|---|
| Lahiry P, Racacho L, Wang J, Robinson JF, Gloor GB, Rupar CA, Siu VM, Bulman DE, Hegele RA. (2013) A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder. Orphanet J Rare Dis 8:126. PubMed ID: 23957953 |
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