epsilon-trimethyllysine hydroxylase deficiency
MONDO:0010469Mondo
Findings
No curated finding names epsilon-trimethyllysine hydroxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
11 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.
- AutismHPOHP:0000717
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Narrow mouthHPOHP:0000160
- 2 of 2 reported patients
- ObesityHPOHP:0001513
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Large foreheadHPOHP:0002003
- 1 of 2 reported patients
- PtosisHPOHP:0000508
- 1 of 2 reported patients
- Short philtrumHPOHP:0000322
- 1 of 2 reported patients
- Underdeveloped nasal alaeHPOHP:0000430
- 1 of 2 reported patients
- Developmental regressionHPOHP:0002376
- 0 of 2 reported patients
- SeizureHPOHP:0001250
- 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.
- TMLHEHGNC:18308
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: epsilon-trimethyllysine hydroxylase deficiency
- Also called
- autism, susceptibility to, X-linked 6, X-linked recessive