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X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males.
Features include always present findings: Nyctalopia. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 2 | Progressive proximal muscle weakness, Neonatal hypotonia |
Pregnancy and birth |
Biomarker and diagnostic research for X-linked immunoneurologic disorder has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for X-linked immunoneurologic disorder.
201 publications have been identified in PubMed for X-linked immunoneurologic disorder. Kisho has analyzed 142 by research type. Research spans Review / Meta-Analysis (72%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (6%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 102 | 72% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about X-linked immunoneurologic disorder
1
Neonatal hypotonia |
Brain and nerves | 1 | Spastic paraplegia |
Laboratory research |
20 |
14% |
Disease patterns and progression | 8 | 6% |
Patient case studies | 6 | 4% |
Testing and diagnosis research | 3 | 2% |
Other research | 2 | 1% |
Clinical study results | 1 | 1% |
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Fiumara M (2026). [PMID: 41175032](https://pubmed.ncbi.nlm.nih.gov/41175032/). *Curr Opin Rheumatol*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Bruneau H (2026). [PMID: 42138629](https://pubmed.ncbi.nlm.nih.gov/42138629/). *Arch Endocrinol Metab*. [Review / Meta-Analysis]
Sahoo SS (2025). [PMID: 39475954](https://pubmed.ncbi.nlm.nih.gov/39475954/). *Blood*. [Review / Meta-Analysis]
Pignataro G (2025). [PMID: 41010942](https://pubmed.ncbi.nlm.nih.gov/41010942/). *Medicina (Kaunas)*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Gross O (2025). [PMID: 40485716](https://pubmed.ncbi.nlm.nih.gov/40485716/). *Kidney Int Rep*. [Epidemiology / Natural History]