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intellectual disability, anterior maxillary protrusion, and strabismus (MRAMS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, anterior maxillary protrusion, and strabismus

MONDO:0013353

Also known as:MRAMSmental retardation, anterior maxillary protrusion, and strabismus

Overview

GeneticsAutosomal recessive · SOBP (chr 6)

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 always present findings: Joint hypermobility and Severe intellectual disability; and very common findings: Strabismus, Open bite, Hyperplasia of the maxilla, and Dental crowding and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Poor speech, Delayed speech and language development, Global developmental delay

Genetic Landscape

SOBP function has not been fully characterized.

Intellectual disability, anterior maxillary protrusion, and strabismus is associated with mutations in the SOBP gene on chromosome 6.

Diagnosis

Genetic testing for SOBP is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 5 very common features, 1 common feature.

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613671

Orphanet

European rare disease database

Orphanet:562559

GARD

Genetic and Rare Diseases Info Center

GARD:17997

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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intellectual disability, anterior maxillary protrusion, and strabismus

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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