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GTR Home > Conditions/Phenotypes > Brachycephaly, trichomegaly, and developmental delay

Brachycephaly, trichomegaly, and developmental delay

Synonyms
MacInnes syndrome

Summary

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTDD, MABAS, MCINS, PAMAS, S23, uS12, RPS23
    Summary: ribosomal protein S23

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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