mandibular hypoplasia-deafness-progeroid syndrome
MONDO:0014157Mondo
Findings
No curated finding names mandibular hypoplasia-deafness-progeroid syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
21 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.
- Abnormally high-pitched voiceHPOHP:0001620
- 4 of 4 reported patients
- Bird-like faciesHPOHP:0000320
- 4 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 3 reported patients · Male
- Dental crowdingHPOHP:0000678
- 4 of 4 reported patients
- Insulin resistanceHPOHP:0000855
- 4 of 4 reported patients
- Joint contractureHPOHP:0034392
- 4 of 4 reported patients
- Lack of skin elasticityHPOHP:0100679
- 4 of 4 reported patients
- LipodystrophyHPOHP:0009125
- 4 of 4 reported patients
- Loss of subcutaneous adipose tissue in limbsHPOHP:0003635
- 4 of 4 reported patients
- Male hypogonadismHPOHP:0000026
- 3 of 3 reported patients
- MicrognathiaHPOHP:0000347
- 4 of 4 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 4 of 4 reported patients
Show the remaining 9
- Telangiectasia of the skinHPOHP:0100585
- 4 of 4 reported patients
- Diabetes mellitusHPOHP:0000819
- 3 of 4 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 4 reported patients
- HypertriglyceridemiaHPOHP:0002155
- 3 of 4 reported patients
- KyphosisHPOHP:0002808
- 3 of 4 reported patients
- OsteoporosisHPOHP:0000939
- 3 of 4 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.
- POLD1HGNC:9175
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: mandibular hypoplasia-deafness-progeroid syndrome
- Also called
- mandibular hypoplasia-hearing loss-progeroid syndromeMDP syndrome