trichothiodystrophy 9, nonphotosensitive
MONDO:0030518Mondo
Findings
No curated finding names trichothiodystrophy 9, nonphotosensitive 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
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Dental malocclusionHPOHP:0000689
- 1 of 1 reported patient
- Diminished deep tendon reflexHPOHP:0001315
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High, narrow palateHPOHP:0002705
- 1 of 1 reported patient
- IchthyosisHPOHP:0008064
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- Keratosis pilarisHPOHP:0032152
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
Show the remaining 3
- Sparse eyebrowHPOHP:0045075
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
- Tiger tail bandingHPOHP:0045055
- 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.
- MARS1HGNC:6898
- Limited · Illumina · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: trichothiodystrophy 9, nonphotosensitive
- Also called
- TTD9