parkinsonian-pyramidal syndrome
Findings
No curated finding names parkinsonian-pyramidal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.
Definition from the Mondo Disease Ontology (MONDO:0009830), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
30 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.
- Abnormal pyramidal signHPOHP:0007256
- Obligate (100% of cases)
- Babinski signHPOHP:0003487
- 10 of 10 reported patients · Young adult onset
- 0 of 1 reported patient
- Frequent (30% to 79% of cases)
- Gait imbalanceHPOHP:0002141
- 2 of 2 reported patients
- HyperreflexiaHPOHP:0001347
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- ParkinsonismHPOHP:0001300
- 3 of 10 reported patients
- Obligate (100% of cases)
Show the remaining 18
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Hypomimic faceHPOHP:0000338
- 3 of 10 reported patients
- Frequent (30% to 79% of cases)
- Intention tremorHPOHP:0002080
- Frequent (30% to 79% of cases)
- Monotonic speechHPOHP:0031435
- 2 of 9 reported patients
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
Genes
2 genes
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.
- FBXO7HGNC:13586
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- SNCAHGNC:11138
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: parkinsonian-pyramidal syndrome
- Also called
- autosomal recessive early-onset Parkinson disease type 15Pallidopyramidal syndromeParkinson disease 15, autosomal recessive