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Features include always present findings: Tiger tail banding; and common findings: Dry, scaly skin (ichthyosis). 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Cutaneous photosensitivity, Dry, scaly skin (ichthyosis), Congenital nonbullous ichthyosiform erythroderma |
TARS1 function has not been fully characterized.
Trichothiodystrophy 7, nonphotosensitive is associated with mutations in the TARS1 gene on chromosome 5.
Genetic testing for TARS1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for trichothiodystrophy 7, nonphotosensitive.
1 publication has been identified in PubMed for trichothiodystrophy 7, nonphotosensitive. Research spans Review / Meta-Analysis (100%).
Zhang H (2025). [PMID: 39487674](https://pubmed.ncbi.nlm.nih.gov/39487674/). *IUBMB life*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1 |
Congenital nonbullous ichthyosiform erythroderma |