trichothiodystrophy 5, nonphotosensitive
Findings
No curated finding names trichothiodystrophy 5, nonphotosensitive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene.
Definition from the Mondo Disease Ontology (MONDO:0010495), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brittle hairHPOHP:0002299
- 2 of 2 reported patients
- Broad-based gaitHPOHP:0002136
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 2 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 2 of 2 reported patients
- Decreased testicular sizeHPOHP:0008734
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Gait ataxiaHPOHP:0002066
Show the remaining 15
- Progeroid facial appearanceHPOHP:0005328
- 2 of 2 reported patients
- Progressive microcephalyHPOHP:0000253
- 2 of 2 reported patients
- Recurrent infectionsHPOHP:0002719
- 2 of 2 reported patients
- Reduced hair sulfur contentHPOHP:0034425
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Slow-growing hairHPOHP:0002217
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RNF113AHGNC:12974
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Illumina · X-linked · 2022
- Limited · Ambry Genetics · X-linked · 2020
- Limited · Genomics England PanelApp · X-linked · 2020
- Limited · G2P · X-linked · 2015
Where it sits
- A kind of
Other names
2 names
Resolves to: trichothiodystrophy 5, nonphotosensitive
- Also called
- nonphotosensitive trichothiodystrophy caused by mutation in RNF113ARNF113A nonphotosensitive trichothiodystrophy