cerebellar-facial-dental syndrome
Findings
No curated finding names cerebellar-facial-dental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
Definition from the Mondo Disease Ontology (MONDO:0014529), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
64 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar hypoplasiaHPOHP:0001321
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- Dental malocclusionHPOHP:0000689
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
Show the remaining 52
- Slender long boneHPOHP:0003100
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Sparse eyebrowHPOHP:0045075
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Tapered fingerHPOHP:0001182
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- TaurodontiaHPOHP:0000679
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Enlarged cisterna magnaHPOHP:0002280
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Abnormal facial shape
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BRF1HGNC:11551
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: cerebellar-facial-dental syndrome
- Also called
- Cerebellofaciodental syndrome