intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Findings
No curated finding names intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterized by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0009581), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Cleft ala nasiHPOHP:0003191
- Very frequent (80% to 99% of cases)
- Decreased serum testosterone concentrationHPOHP:0040171
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- Very frequent (80% to 99% of cases)
Show the remaining 10
- Narrow nasal baseHPOHP:0012809
- Very frequent (80% to 99% of cases)
- Sparse pubic hairHPOHP:0002225
- Very frequent (80% to 99% of cases)
- Type I diabetes mellitusHPOHP:0100651
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Breast aplasiaHPOHP:0100783
- Frequent (30% to 79% of cases)