Treacher collins syndrome 4

Preferred Label : Treacher collins syndrome 4;

Symbol : TCS4;

CISMeF acronym : TCS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RNA polymerase I, subunit-B gene (POLR1B, 602000.0001);

Prefixed ID : #618939;

Details

Origin ID

618939;

UMLS CUI

C5394546;

Genes related to phenotype
- Polymerase I, rna, subunit b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choanal stenosis [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Downslanted palpebral fissures [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties in infancy [HPO term]
- Lower eyelid coloboma [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Preauricular hair displacement [HPO term]
- Respiratory failure requiring assisted ventilation [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Treacher-Collins syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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