neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
MONDO:0014940Mondo
Findings
No curated finding names neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 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
- Progressive
HPO, annotations 2026-09-02
Features
21 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
- 20 of 20 reported patients
- Cognitive impairmentHPOHP:0100543
- 11 of 11 reported patients
- DysarthriaHPOHP:0001260
- 20 of 20 reported patients
- Hypergonadotropic hypogonadismHPOHP:0000815
- 2 of 2 reported patients
- Vertical supranuclear gaze palsyHPOHP:0000511
- 18 of 20 reported patients
- Mental deteriorationHPOHP:0001268
- 8 of 9 reported patients
- DystoniaHPOHP:0001332
- 7 of 9 reported patients
- Cerebellar atrophyHPOHP:0001272
- 4 of 8 reported patients
- DyskinesiaHPOHP:0100660
- 4 of 11 reported patients
- Hearing impairmentHPOHP:0000365
- 3 of 9 reported patients
- Urinary incontinenceHPOHP:0000020
- 3 of 9 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 2 of 9 reported patients
Show the remaining 9
- NystagmusHPOHP:0000639
- 2 of 11 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 1 of 9 reported patients
- TremorHPOHP:0001337
- 1 of 9 reported patients
- DysdiadochokinesisHPOHP:0002075
- DysmetriaHPOHP:0001310
- Gait ataxiaHPOHP:0002066
- Gait disturbanceHPOHP:0001288
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.
- SQSTM1HGNC:11280
- Definitive · Illumina · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- Also called
- NADGPneurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP