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Features include always present findings: Hypertonia, Dermal translucency, Inguinal hernia, and Wide anterior fontanel and others. 29 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 2 | Enlarged liver (hepatomegaly), Elevated circulating hepatic transaminase concentration |
SUPT7L function has not been fully characterized.
Fischer-Zirnsak progeroid syndrome is associated with mutations in the SUPT7L gene on chromosome 2.
Genetic testing for SUPT7L is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 28 always present features.
No clinical trials have been registered for Fischer-Zirnsak progeroid syndrome.
1 publication has been identified in PubMed for Fischer-Zirnsak progeroid syndrome. Research spans Case Report / Case Series (100%).
Kopp J (2024). [PMID: 38592547](https://pubmed.ncbi.nlm.nih.gov/38592547/). *Human genetics*. [Case Report / Case Series]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:08 PM UTC
Online Mendelian Inheritance in Man
Common questions about Fischer-Zirnsak progeroid syndrome
Lab test results
2 |
Abnormal circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration |
Brain and nerves | 2 | Absent speech, Severe global developmental delay |
Head and neck | 2 | Secondary microcephaly, Triangular face |
Blood and immune system | 2 | Low platelet count (thrombocytopenia), Elevated white blood cell count (increased total leukocyte count) |
Eyes | 1 | Developmental cataract |
Hormones | 1 | Hypothyroidism |
Heart and blood vessels | 1 | Pericardial effusion |
Growth and development | 1 | Intrauterine growth retardation |