trichothiodystrophy 8, nonphotosensitive
MONDO:0030517Mondo
Findings
No curated finding names trichothiodystrophy 8, 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
24 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Woolly hairHPOHP:0002224
- 2 of 2 reported patients
- Ankle clonusHPOHP:0011448
- 1 of 2 reported patients
- AreflexiaHPOHP:0001284
- 1 of 2 reported patients
- Babinski signHPOHP:0003487
- 1 of 2 reported patients
- Craniofacial dystoniaHPOHP:0012179
- 1 of 2 reported patients
- Cutis laxaHPOHP:0000973
- 1 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 1 of 2 reported patients
- EsodeviationHPOHP:0020045
- 1 of 2 reported patients
- Head titubationHPOHP:0002599
- 1 of 2 reported patients
- HypotelorismHPOHP:0000601
- 1 of 2 reported patients
Show the remaining 12
- Infra-orbital creaseHPOHP:0100876
- 1 of 2 reported patients
- Jerky ocular pursuit movementsHPOHP:0008003
- 1 of 2 reported patients
- Long philtrumHPOHP:0000343
- 1 of 2 reported patients
- Prominent noseHPOHP:0000448
- 1 of 2 reported patients
- Protruding earHPOHP:0000411
- 1 of 2 reported patients
- RetrognathiaHPOHP:0000278
- 1 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.
- AARS1HGNC:20
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
1 name
Resolves to: trichothiodystrophy 8, nonphotosensitive
- Also called
- TTD8