dystonia 37, early-onset, with striatal lesions
MONDO:0957385Mondo
Findings
No curated finding names dystonia 37, early-onset, with striatal lesions yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- AtaxiaHPOHP:0001251
- 3 of 3 reported patients
- ChoreaHPOHP:0002072
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- DysphagiaHPOHP:0002015
- 3 of 3 reported patients
- Loss of ambulationHPOHP:0002505
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 3 of 3 reported patients
- Generalized dystoniaHPOHP:0007325
- 2 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- ChoreoathetosisHPOHP:0001266
- 1 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 3 reported patients
- Leg dystoniaHPOHP:0031959
- 1 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 3 reported patients
Show the remaining 2
- Oculomotor apraxiaHPOHP:0000657
- 1 of 3 reported patients
- Sleep apneaHPOHP:0010535
- 1 of 3 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.
- NUP54HGNC:17359
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
Where it sits
- A kind of