facial paresis, hereditary congenital, 3
Findings
No curated finding names facial paresis, hereditary congenital, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013880), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Nonprogressive
HPO, annotations 2026-09-02
Features
21 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.
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Downturned corners of mouthHPOHP:0002714
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Facial palsyHPOHP:0010628
- 3 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- High palateHPOHP:0000218
Show the remaining 9
- Posteriorly rotated earsHPOHP:0000358
- 2 of 2 reported patients
- Short noseHPOHP:0003196
- 1 of 1 reported patient
- Smooth philtrumHPOHP:0000319
- 2 of 2 reported patients
- Tented upper lip vermilionHPOHP:0010804
- 1 of 1 reported patient
- Unilateral ptosisHPOHP:0007687
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 1 of 2 reported patients
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.
- HOXB1HGNC:5111
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: facial paresis, hereditary congenital, 3
- Also called
- congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1facial paresis, hereditary congenital, type 3HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome