facial palsy, congenital, with ptosis and velopharyngeal dysfunction
MONDO:0060589Mondo
Findings
No curated finding names facial palsy, congenital, with ptosis and velopharyngeal dysfunction yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Nonprogressive
HPO, annotations 2026-09-02
Features
7 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.
- Hypernasal speechHPOHP:0001611
- 11 of 11 reported patients
- Facial palsyHPOHP:0010628
- 11 of 12 reported patients
- PtosisHPOHP:0000508
- 11 of 14 reported patients
- Nasal regurgitationHPOHP:0011469
- 5 of 7 reported patients
- DysphagiaHPOHP:0002015
- 1 of 7 reported patients
- Brain imaging abnormalityHPOHP:0410263
- 0 of 3 reported patients
- Velopharyngeal insufficiencyHPOHP:0000220
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.
- TUBB6HGNC:20776
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
- A kind of
Other names
1 name
Resolves to: facial palsy, congenital, with ptosis and velopharyngeal dysfunction
- Also called
- facial palsy, congenitla, with ptosis and velopharyngeal dysfunction