parkinsonism-dystonia, infantile
Findings
No curated finding names parkinsonism-dystonia, infantile yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
Definition from the Mondo Disease Ontology (MONDO:0013150), read 2026-09-29. CC BY 4.0.
Features
20 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.
- DystoniaHPOHP:0001332
- Very frequent (80% to 99% of cases)
- ParkinsonismHPOHP:0001300
- Very frequent (80% to 99% of cases)
- Abnormal circulating carboxylic acid concentrationHPOHP:0004354
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- BradykinesiaHPOHP:0002067
- Frequent (30% to 79% of cases)
- Cerebral palsyHPOHP:0100021
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Frequent (30% to 79% of cases)
Show the remaining 8
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- HypokinesiaHPOHP:0002375
- Frequent (30% to 79% of cases)
- Hypomimic faceHPOHP:0000338
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- Limb hypertoniaHPOHP:0002509
- Frequent (30% to 79% of cases)
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.
- SLC6A3HGNC:11049
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: parkinsonism-dystonia, infantile
- Also called
- IPDPKDYS