achalasia-progeroid syndrome
MONDO:0700300Mondo
Findings
No curated finding names achalasia-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 · Childhood onset
HPO, annotations 2026-09-02
Features
26 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.
- AchalasiaHPOHP:0002571
- 5 of 5 reported patients
- Broad foreheadHPOHP:0000337
- 5 of 5 reported patients
- Corneal opacityHPOHP:0007957
- 5 of 5 reported patients
- Deeply set eyeHPOHP:0000490
- 5 of 5 reported patients
- Dry skinHPOHP:0000958
- 5 of 5 reported patients
- Excessive wrinkled skinHPOHP:0007392
- 5 of 5 reported patients
- Generalized lipodystrophyHPOHP:0009064
- 5 of 5 reported patients
- HypercholesterolemiaHPOHP:0003124
- 2 of 2 reported patients
- Midface retrusionHPOHP:0011800
- 5 of 5 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 5 of 5 reported patients
- Short phalanx of fingerHPOHP:0009803
- 4 of 4 reported patients
- Triangular faceHPOHP:0000325
- 5 of 5 reported patients
Show the remaining 14
- Feeding difficultiesHPOHP:0011968
- 4 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 5 reported patients
- Short statureHPOHP:0004322
- 4 of 5 reported patients
- CataractHPOHP:0000518
- 3 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 5 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 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.
- BUD13HGNC:28199
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of