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Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy), Ataxia, Delayed speech and language development, and Hypoplasia of the corpus callosum and others; and common findings: Dystonia, Dysmetria, Low muscle tone (hypotonia), and Lower limb spasticity and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 10 | Dystonia, Ataxia, Lower limb spasticity |
REPS1 function has not been fully characterized.
Neurodegeneration with brain iron accumulation 7 is associated with mutations in the REPS1 gene on chromosome 6.
Genetic testing for REPS1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for neurodegeneration with brain iron accumulation 7 has been reported in the published literature.
Phenotype severity distribution: 6 always present features, 17 common features.
No clinical trials have been registered for neurodegeneration with brain iron accumulation 7.
17 publications have been identified in PubMed for neurodegeneration with brain iron accumulation 7. Research spans Basic Science / Preclinical (41%), Diagnostic / Biomarker (24%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 7 | 41% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:48 PM UTC
Online Mendelian Inheritance in Man
Muscles |
5 |
Shrinkage of the cerebellum (cerebellar atrophy), Low muscle tone (hypotonia), Axial hypotonia |
Arms and legs | 1 | Lower limb spasticity |
Lab test results | 1 | Increased circulating very long-chain fatty acid concentration |
Eyes | 1 | Nystagmus |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Testing and diagnosis research
4 |
24% |
Research summaries | 3 | 18% |
Clinical study results | 2 | 12% |
Patient case studies | 1 | 6% |
Yu Z (2026). [PMID: 41582221](https://pubmed.ncbi.nlm.nih.gov/41582221/). *Acta neuropathologica*. [Basic Science / Preclinical]
Sabbir MG (2026). [PMID: 41660275](https://pubmed.ncbi.nlm.nih.gov/41660275/). *Frontiers in cell and developmental biology*. [Basic Science / Preclinical]
Cozzi A (2025). [PMID: 40105046](https://pubmed.ncbi.nlm.nih.gov/40105046/). *Glia*. [Basic Science / Preclinical]
Ferrera G (2025). [PMID: 39578614](https://pubmed.ncbi.nlm.nih.gov/39578614/). *European journal of human genetics : EJHG*. [Case Report / Case Series]
Kittilukkana A (2025). [PMID: 40600972](https://pubmed.ncbi.nlm.nih.gov/40600972/). *Metallomics : integrated biometal science*. [Clinical Trial Publication]
Wang Y (2025). [PMID: 40724917](https://pubmed.ncbi.nlm.nih.gov/40724917/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Ghaderi S (2025). [PMID: 40722307](https://pubmed.ncbi.nlm.nih.gov/40722307/). *Brain sciences*. [Review / Meta-Analysis]
Khormi I (2025). [PMID: 39631056](https://pubmed.ncbi.nlm.nih.gov/39631056/). *The neuroradiology journal*. [Diagnostic / Biomarker]
Ficiarà E (2025). [PMID: 40243777](https://pubmed.ncbi.nlm.nih.gov/40243777/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Chen C (2025). [PMID: 39586562](https://pubmed.ncbi.nlm.nih.gov/39586562/). *Archives of biochemistry and biophysics*. [Diagnostic / Biomarker]