Tenorio syndrome
MONDO:0014553Mondo
Findings
No curated finding names Tenorio syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
39 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.
- MacrocephalyHPOHP:0000256
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 6 reported patients
- HypoglycemiaHPOHP:0001943
- 3 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 6 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 2 of 4 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 4 reported patients
- Large foreheadHPOHP:0002003
- 2 of 6 reported patients
- MacroglossiaHPOHP:0000158
- 2 of 6 reported patients
- Raynaud phenomenonHPOHP:0030880
- 2 of 6 reported patients
- Cavum septum pellucidumHPOHP:0002389
- 1 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 4 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 6 reported patients
Show the remaining 27
- AnxietyHPOHP:0000739
- 1 of 6 reported patients
- ApneaHPOHP:0002104
- 1 of 6 reported patients
- Cerebral palsyHPOHP:0100021
- 1 of 6 reported patients
- ClumsinessHPOHP:0002312
- 1 of 6 reported patients
- Delayed cranial suture closureHPOHP:0000270
- 1 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 6 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.
- RNF125HGNC:21150
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · G2P · Autosomal dominant · 2021
Where it sits
- A kind of