infantile-onset generalized dyskinesia with orofacial involvement
MONDO:0044637Mondo
Findings
No curated finding names infantile-onset generalized dyskinesia with orofacial involvement yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Orofacial dyskinesiaHPOHP:0002310
- Very frequent (80% to 99% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Nasogastric tube feeding in infancyHPOHP:0011470
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- HemiballismusHPOHP:0100248
- Occasional (5% to 29% of cases)
- TremorHPOHP:0001337
- Occasional (5% to 29% of cases)
Reported absent (1)
- Brain atrophyHPOHP:0012444
Show the remaining 3
- DyskinesiaHPOHP:0100660
- Hyperkinetic movementsHPOHP:0002487
- SeizureHPOHP:0001250
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.
- PDE10AHGNC:8772
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: infantile-onset generalized dyskinesia with orofacial involvement
- Also called
- dyskinesia, limb and orofacial, infantile-onsetinfantile-onset orofacial-trunk-limbs dyskinesiaIOLOD