Facial paresis, hereditary congenital, 3

Preferred Label : Facial paresis, hereditary congenital, 3;

Symbol : HCFP3;

CISMeF acronym : HCFP3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homeobox B1 gene (HOXB1, 142968.0001);

Prefixed ID : #614744;

Details

Origin ID

614744;

UMLS CUI

C3553625;

Automatic exact mappings (from CISMeF team)
- Congenital hereditary facial paralysis-variable hearing loss syndrome [ORDO Disease]
Genes related to phenotype
- Homeobox b1 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Downturned corners of mouth [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Epicanthus [HPO term]
- Esophoria [HPO term]
- Esotropia [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Myopathic facies [HPO term]
- Nonprogressive [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nose [HPO term]
- Smooth philtrum [HPO term]
ORDO concept(s)
- Congenital hereditary facial paralysis-variable hearing loss syndrome [ORDO Disease]
See also inter- (CISMeF)
- HOXB1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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