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GTR Home > Conditions/Phenotypes > Cerebellar-facial-dental syndrome

Cerebellar-facial-dental syndrome

Synonyms
Cerebellofaciodental syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015). [from OMIM]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRF, BRF-1, CFDS, GTF3B, HEL-S-76p, TAF3B2, TAF3C, TAFIII90, TF3B90, TFIIIB90, hBRF, BRF1
    Summary: BRF1 RNA polymerase III transcription initiation factor subunit

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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