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blepharophimosis - intellectual disability syndrome, Verloes type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blepharophimosis - intellectual disability syndrome, Verloes type

MONDO:0011432

Also known as:BMRS type VBMRS, Verloes typeblepharophimosis-intellectual disability syndrome type V

Overview

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Long philtrum, Narrow palate, Trigonocephaly, and Seizure and 43 more.

Organ System	Phenotype Count	Example Features
Head and neck	5	Narrow palate, High palate, Round face
Brain and nerves

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 1:28 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604314

Orphanet

European rare disease database

Orphanet:293725

GARD

Genetic and Rare Diseases Info Center

GARD:17342

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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blepharophimosis - intellectual disability syndrome, Verloes type

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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