diabetes, deafness, developmental delay, and short stature syndrome
MONDO:0957997Mondo
Findings
No curated finding names diabetes, deafness, developmental delay, and short stature 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
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
14 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Type II diabetes mellitusHPOHP:0005978
- 2 of 2 reported patients
- AlopeciaHPOHP:0001596
- 1 of 2 reported patients
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- 1 of 2 reported patients
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 1 of 2 reported patients
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 1 of 2 reported patients
- High myopiaHPOHP:0011003
- 1 of 2 reported patients
- Hypergonadotropic hypogonadismHPOHP:0000815
- 1 of 2 reported patients
- HypopituitarismHPOHP:0040075
- 1 of 2 reported patients
Show the remaining 2
- Reduced circulating growth hormone concentrationHPOHP:0034323
- 1 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 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.
- MANFHGNC:15461
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of