blepharophimosis - intellectual disability syndrome, Verloes type
MONDO:0011432Mondo
Findings
No curated finding names blepharophimosis - intellectual disability syndrome, Verloes type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
32 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 preputium morphologyHPOHP:0100587
- Frequent (30% to 79% of cases)
- Adducted thumbHPOHP:0001181
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- HypsarrhythmiaHPOHP:0002521
- Frequent (30% to 79% of cases)
- Moderate global developmental delayHPOHP:0011343
- Frequent (30% to 79% of cases)
- Primary microcephalyHPOHP:0011451
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Abnormal caudate nucleus morphologyHPOHP:0002339
- Occasional (5% to 29% of cases)
- Broad columellaHPOHP:0010761
- Occasional (5% to 29% of cases)
- Bulbous noseHPOHP:0000414
- Occasional (5% to 29% of cases)
Show the remaining 20
- Choroid plexus cystHPOHP:0002190
- Occasional (5% to 29% of cases)
- Cleft soft palateHPOHP:0000185
- Occasional (5% to 29% of cases)
- Deep palmar creaseHPOHP:0006191
- Occasional (5% to 29% of cases)
- Depressed nasal tipHPOHP:0000437
- Occasional (5% to 29% of cases)
- Full cheeksHPOHP:0000293
- Occasional (5% to 29% of cases)
- Glanular hypospadiasHPOHP:0000807
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: blepharophimosis - intellectual disability syndrome, Verloes type
- Also called
- blepharophimosis-intellectual disability syndrome type VBMRS type VBMRS, Verloes type