early-onset parkinsonism-intellectual disability syndrome
Findings
No curated finding names early-onset parkinsonism-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A basal ganglia disorder characterized by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.
Definition from the Mondo Disease Ontology (MONDO:0010709), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Middle age onset · Young adult onset
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.
- BradykinesiaHPOHP:0002067
- 7 of 7 reported patients
- ParkinsonismHPOHP:0001300
- 7 of 7 reported patients
- Parkinsonism with favorable response to dopaminergic medicationHPOHP:0002548
- 6 of 6 reported patients
- RigidityHPOHP:0002063
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Resting tremorHPOHP:0002322
- 6 of 7 reported patients
- Abnormal speech pattern
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.
- RAB39BHGNC:16499
- Definitive · ClinGen · X-linked · 2018
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2018
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: early-onset parkinsonism-intellectual disability syndrome
- Also called
- Laxova-Opitz syndromeWaisman syndromeWaisman syndrome, X-linked recessive