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GTR Home > Conditions/Phenotypes > Cortical dysplasia-focal epilepsy syndrome

Cortical dysplasia-focal epilepsy syndrome

Synonyms
Pitt-Hopkins-like syndrome 1
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016). [from OMIM]

Available tests

55 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AUTS15, CASPR2, CDFE, NRXN4, PTHSL1, CNTNAP2
    Summary: contactin associated protein 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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