dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
MONDO:0015003Mondo
Findings
No curated finding names dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 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 · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
46 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.
- DysarthriaHPOHP:0001260
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- DystoniaHPOHP:0001332
- 12 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- 6 of 7 reported patients · Juvenile onset
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Striatal T2 hyperintensityHPOHP:0031206
- Very frequent (80% to 99% of cases)
- Craniofacial dystoniaHPOHP:0012179
- 3 of 7 reported patients
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- 2 of 7 reported patients
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Limb dystoniaHPOHP:0002451
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 3 of 7 reported patients
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- 1 of 7 reported patients
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- 3 of 7 reported patients
Show the remaining 34
- Abnormality of visual evoked potentialsHPOHP:0000649
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
- Axial dystoniaHPOHP:0002530
- Occasional (5% to 29% of cases)
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
- Cerebral atrophyHPOHP:0002059
- Occasional (5% to 29% of cases)
- ChoreaHPOHP:0002072
- 2 of 7 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.
- MECRHGNC:19691
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
Where it sits
Other names
2 names
Resolves to: dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
- Also called
- dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABGDYTOABG