Cerebellofaciodental syndrome

Preferred Label : Cerebellofaciodental syndrome;

Symbol : CFDS;

CISMeF acronym : CFDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar-facial-dental syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the S. Cerevisiae BRF1 gene (BRF1, 604902.0001);

Prefixed ID : #616202;

Details

Origin ID

616202;

UMLS CUI

C4015495;

Currated CISMeF NLP mapping
- Cerebellar-facial-dental syndrome [ORDO Disease]
- Cerebellar-facial-dental syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Brf1 subunit of rna polymerase III transcription initiation factor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dental malocclusion [HPO term]
- Fine hair [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the pons [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Laryngeal stridor [HPO term]
- Laryngomalacia [HPO term]
- Low-set ears [HPO term]
- Macrodontia of permanent maxillary central incisor [HPO term]
- Microcephaly [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Slender long bone [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse hair [HPO term]
- Tapered finger [HPO term]
- Taurodontia [HPO term]
ORDO concept(s)
- Cerebellar-facial-dental syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar-facial-dental syndrome [ORDO Disease]
- Cerebellar-facial-dental syndrome (disorder) [SNOMED CT concept]

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