Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.

American journal of medical genetics. Part A - 1 May 2021

Honjo Rachel Sayuri, Castro Matheus Augusto Araújo, Ferraciolli Suely Fazio, Soares Junior Luiz Alberto Valente, Pastorino Antonio Carlos, Bertola Débora Romeo, Miyake Noriko, Matsumoto Naomichi, Kim Chong Ae

Abstract excerpt

Cerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It is an autosomal-recessive condition described in 2015 caused by pathogenic variants in BRF1. Here, we report a Brazilian patient who faced a diagnostic challenge beginning at 11 months of age. Fortunately, whole-exome sequencing (WES) was performed, detecting the BRF1...

Topics

Join the communities discussing this publication.

Abnormalities, Multiple
Cerebellum
Craniofacial Abnormalities
Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscular Atrophy

Nervous System Malformations

TATA-Binding Protein Associated Factors

Tooth Abnormalities

Source

Identifiers

PMID: 33645901
DOI: 10.1002/ajmg.a.62140

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.PMID 33645901Read ↗

A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome.Semantic proximity Read ↗

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.Semantic proximity Read ↗

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.Semantic proximity Read ↗

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.Semantic proximity Read ↗

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.Semantic proximity Read ↗

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.Semantic proximity Read ↗

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.Semantic proximity Read ↗

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.Semantic proximity Read ↗

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.Semantic proximity Read ↗

Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.Semantic proximity Read ↗

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.Semantic proximity Read ↗

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.