blepharophimosis - intellectual disability syndrome, Ohdo type
MONDO:0009583Mondo
Findings
No curated finding names blepharophimosis - intellectual disability syndrome, Ohdo type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0009583), read 2026-09-29. CC BY 4.0.
Features
26 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 palmar dermatoglyphicsHPOHP:0001018
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- AmblyopiaHPOHP:0000646
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Heart murmurHPOHP:0030148
- Very frequent (80% to 99% of cases)
- Hypoplasia of teethHPOHP:0000685
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrodontiaHPOHP:0000691
- Very frequent (80% to 99% of cases)
Show the remaining 14
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- ProteinuriaHPOHP:0000093
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: blepharophimosis - intellectual disability syndrome, Ohdo type
- Also called
- blepharophimosis syndrome, Ohdo typeBMRS, Ohdo typeOhdo syndromeOhdo-Madokoro-Sonoda syndrome