Pitt-Hopkins-like Syndrome 1
| Disorder | |
|---|---|
| OMIM #: | #610042 (Click to access OMIM database) |
| Disorder: | Pitt-Hopkins-like Syndrome 1 |
| Also known as: | CDFE SYNDROME Cortical dysplasia-focal epilepsy syndrome PTHSL1 |
| Clinical | |
| Phenotype: | cortical dysplasia, seizures, hyporeflexia, hypotonia, developmental delay, hyperactivity, language regression, impulsive and aggressive behavior |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | CNTNAP2 |
| Base Change: | c.3709delG |
| Amino Acid Change: | p.Asp1237Ilefs*17 |
| Last updated: | 2022-11-03 |
| References |
|---|
| Jackman C, Horn ND, Molleston JP, Sokol DK. (2009) Gene associated with seizures, autism, and hepatomegaly in an Amish girl. Pediatr Neurol Apr;40(4):310-3. PubMed ID: 19302947 |
| Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, and Morton DH. (2006) Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 354(13): 1370-1377. PubMed ID: 16571880 |
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