trichothiodystrophy 6, nonphotosensitive
Findings
No curated finding names trichothiodystrophy 6, 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 GTF2E2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014841), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
19 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
- Decreased mean corpuscular volumeHPOHP:0025066
- 2 of 2 reported patients
- Dry skinHPOHP:0000958
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- IchthyosisHPOHP:0008064
- 2 of 2 reported patients
- Increased HbA2 hemoglobinHPOHP:0045048
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
Show the remaining 7
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Coronal craniosynostosisHPOHP:0004440
- EsotropiaHPOHP:0000565
- Long-tract signHPOHP:0002423
- Mild intrauterine growth retardationHPOHP:0008883
- Slow-growing hairHPOHP:0002217
- Small for gestational ageHPOHP:0001518
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.
- GTF2E2HGNC:4651
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: trichothiodystrophy 6, nonphotosensitive
- Also called
- GTF2E2 nonphotosensitive trichothiodystrophynonphotosensitive trichothiodystrophy caused by mutation in GTF2E2trichothiodystrophy 6, nonphotosensitive; TTD6TTD6