trichothiodystrophy 3, photosensitive
MONDO:0014619Mondo
Findings
No curated finding names trichothiodystrophy 3, photosensitive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
35 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.
- Abdominal adhesionsHPOHP:0033134
- 1 of 1 reported patient
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Brittle hairHPOHP:0002299
- 4 of 4 reported patients
- Congenital ichthyosiform erythrodermaHPOHP:0007431
- 1 of 1 reported patient
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 1 of 3 reported patients · Congenital onset
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 4 of 4 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Developmental cataractHPOHP:0000519
- 1 of 1 reported patient
- EclabionHPOHP:0012472
- 1 of 1 reported patient
- EctropionHPOHP:0000656
- 1 of 1 reported patient
Show the remaining 23
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- HypotelorismHPOHP:0000601
- 1 of 1 reported patient
- Increased circulating IgA concentrationHPOHP:0003261
- 1 of 1 reported patient
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.
- GTF2H5HGNC:21157
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of