Seizures, scoliosis, and macrocephaly syndrome
| Disorder | |
|---|---|
| OMIM #: | #616682 (Click to access OMIM database) |
| Disorder: | Seizures, scoliosis, and macrocephaly syndrome |
| Also known as: | SSMS |
| Clinical | |
| Phenotype: | moderate developmental delay, motor delay, seizures with onset between 2 and 5 years of age, hypotonia, scoliosis, macrocephaly, coarse features, bilateral cryptorchidism in males, long hypoplastic philtrum, hypertelorism |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | EXT2 |
| Base Change: | T>G, at nucleotide 260 |
| Amino Acid Change: | met 87 --> arg |
| 2 Old Order Mennonite | |
| Gene: | EXT2 |
| Base Change: | C>T, at nucleotide 283 |
| Amino Acid Change: | arg 95 --> cys |
| Last updated: | 2023-02-02 |
| References |
|---|
| Farhan SM, Wang J, Robinson JF, Prasad AN, Rupar CA, Siu VM; FORGE Canada Consortium, Hegele RA. (2015) Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet Oct;52(10):666-75. PubMed ID: 26246518 |
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