Partington syndrome
Findings
No curated finding names Partington syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0010654), read 2026-09-29. CC BY 4.0.
Features
17 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.
- Intellectual disabilityHPOHP:0001249
- 38 of 38 reported patients · Male
- Very frequent (80% to 99% of cases)
- Limb dystoniaHPOHP:0002451
- Very frequent (80% to 99% of cases)
- Triangular faceHPOHP:0000325
- Very frequent (80% to 99% of cases)
- Focal dystoniaHPOHP:0004373
- 21 of 34 reported patients
- DysarthriaHPOHP:0001260
- 15 of 28 reported patients
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Show the remaining 5
- Facial telangiectasiaHPOHP:0007380
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- 12 of 40 reported patients
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- 8 of 28 reported patients
- Infantile spasmsHPOHP:0012469
- 5 of 40 reported patients · Infantile onset
- CamptodactylyHPOHP:0012385
- 3 of 46 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.
- ARXHGNC:18060
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: Partington syndrome
- Also called
- Partington syndrome, X-linked recessivePartington-Mulley syndromeX-linked intellectual disability-dystonia-dysarthria syndrome