RECON progeroid syndrome
MONDO:0957266Mondo
Findings
No curated finding names RECON progeroid syndrome 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
36 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.
- Cutaneous photosensitivityHPOHP:0000992
- 3 of 3 reported patients
- Dry skinHPOHP:0000958
- 3 of 3 reported patients
- Long thumbHPOHP:0032524
- 3 of 3 reported patients
- Narrow nasal ridgeHPOHP:0000418
- 3 of 3 reported patients
- Progeroid facial appearanceHPOHP:0005328
- 3 of 3 reported patients
- Prominence of the premaxillaHPOHP:0010759
- 3 of 3 reported patients
- Smooth philtrumHPOHP:0000319
- 3 of 3 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 3 reported patients
- Delayed eruption of permanent teethHPOHP:0000696
- 2 of 3 reported patients
- Growth delayHPOHP:0001510
- 2 of 3 reported patients
- Keratoconjunctivitis siccaHPOHP:0001097
- 2 of 3 reported patients
- Red eyeHPOHP:0025337
- 2 of 3 reported patients
Show the remaining 24
- Absent lower eyelashesHPOHP:0007646
- 1 of 3 reported patients
- AnemiaHPOHP:0001903
- 1 of 3 reported patients
- ArachnodactylyHPOHP:0001166
- 1 of 3 reported patients
- Attached earlobeHPOHP:0009907
- 1 of 3 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 3 reported patients
- Dental crowdingHPOHP:0000678
- 1 of 3 reported patients
Genes
2 genes
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.
Where it sits
- A kind of