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GTR Home > Conditions/Phenotypes > SIN3A-related intellectual disability syndrome due to a point mutation

SIN3A-related intellectual disability syndrome due to a point mutation

Synonyms
15q24 Microdeletion Syndrome; Witteveen-kolk syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder with characteristic distinctive facial features, microcephaly, short stature, and mildly impaired intellectual development with delayed cognitive and motor development and subtle anomalies on MRI-brain imaging (summary by Balasubramanian et al., 2021). [from OMIM]

Available tests

18 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHR15DELq24, DEL15Q24, WITKOS, SIN3A
    Summary: SIN3 transcription regulator family member A

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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