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Features include: Curly hair, Mild intellectual disability, Chronic irritative conjunctivitis, and Global developmental delay and 10 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Persistently decreased total neutrophil count, Recurrent infections, Decreased total neutrophil count |
Biomarker and diagnostic research for Onychotrichodysplasia and neutropenia has been reported in the published literature.
No clinical trials have been registered for Onychotrichodysplasia and neutropenia.
114 publications have been identified in PubMed for Onychotrichodysplasia and neutropenia. Research spans Review / Meta-Analysis (65%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (8%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 74 | 65% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:54 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Onychotrichodysplasia and neutropenia
Brain and nerves
2 |
Mild intellectual disability, Global developmental delay |
Eyes | 1 | Chronic irritative conjunctivitis |
Arms and legs | 1 | Hypoplastic fingernail |
Skin | 1 | Concave nail |
Laboratory research
18 |
16% |
Disease patterns and progression | 9 | 8% |
Patient case studies | 5 | 4% |
Testing and diagnosis research | 3 | 3% |
Clinical study results | 3 | 3% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Clinical Trial Publication]
Soodhana D (2025). [PMID: 40416472](https://pubmed.ncbi.nlm.nih.gov/40416472/). *J ASEAN Fed Endocr Soc*. [Case Report / Case Series]
Li C (2025). [PMID: 40736845](https://pubmed.ncbi.nlm.nih.gov/40736845/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Shabshin G (2025). [PMID: 40261331](https://pubmed.ncbi.nlm.nih.gov/40261331/). *Orthopadie (Heidelb)*. [Review / Meta-Analysis]
Molteni R (2025). [PMID: 40195449](https://pubmed.ncbi.nlm.nih.gov/40195449/). *Nat Med*. [Basic Science / Preclinical]