primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
MONDO:0018320Mondo
Findings
No curated finding names primary microcephaly-mild intellectual disability-young-onset diabetes syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
67 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.
- Diabetes mellitusHPOHP:0000819
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Primary microcephalyHPOHP:0011451
- Very frequent (80% to 99% of cases)
- Proportionate short statureHPOHP:0003508
- Very frequent (80% to 99% of cases)
- Small for gestational ageHPOHP:0001518
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
Show the remaining 55
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Occasional (5% to 29% of cases)
- Anteverted naresHPOHP:0000463
- Occasional (5% to 29% of cases)
- Axial hypotoniaHPOHP:0008936
- Occasional (5% to 29% of cases)
- Blue scleraeHPOHP:0000592
- Occasional (5% to 29% of cases)
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