trichothiodystrophy 2, photosensitive
MONDO:0014615Mondo
Findings
No curated finding names trichothiodystrophy 2, 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
8 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.
- Coarse hairHPOHP:0002208
- 2 of 2 reported patients
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 2 of 2 reported patients · Congenital onset
- Cutaneous photosensitivityHPOHP:0000992
- 2 of 2 reported patients
- IchthyosisHPOHP:0008064
- 2 of 2 reported patients · Infantile onset
- Tiger tail bandingHPOHP:0045055
- 2 of 2 reported patients
- Agenesis of maxillary lateral incisorHPOHP:0000690
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 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.
- ERCC3HGNC:3435
- Definitive · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of