severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
MONDO:0018572Mondo
Findings
No curated finding names severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
11 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.
- Abnormality of the ankleHPOHP:0003028
- Obligate (100% of cases)
- Coarse facial featuresHPOHP:0000280
- Obligate (100% of cases)
- Finger joint hypermobilityHPOHP:0006094
- Obligate (100% of cases)
- Genu valgumHPOHP:0002857
- Obligate (100% of cases)
- HypotoniaHPOHP:0001252
- Obligate (100% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Obligate (100% of cases)
- StrabismusHPO · MondoHP:0000486
- Obligate (100% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Sleep disturbanceHPOHP:0002360
- Frequent (30% to 79% of cases)