intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
MONDO:0018711Mondo
Findings
No curated finding names intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
24 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.
- Broad columellaHPOHP:0010761
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- LeukoencephalopathyHPOHP:0002352
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
Show the remaining 12
- Narrow palateHPOHP:0000189
- Frequent (30% to 79% of cases)
- Overlapping toeHPOHP:0001845
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- Frequent (30% to 79% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)