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intellectual developmental disorder, autosomal recessive 69 (MRT69) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 69

MONDO:0032715

Also known as:MRT69Mental Retardation, Autosomal Recessive 69

Overview

GeneticsAutosomal recessive · ZBTB11 (chr 3)

ResearchLimited published research (1 article)

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: Moderate intellectual disability, Delayed speech and language development, Ataxia, and Drooling and others; and common findings: Microcephaly, Cerebellar hypoplasia, Delayed ability to walk, and Enlarged brain ventricles (ventriculomegaly). 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Moderate intellectual disability, Delayed speech and language development, Dysarthria

Genetic Landscape

ZBTB11 function has not been fully characterized.

Intellectual developmental disorder, autosomal recessive 69 is associated with mutations in the ZBTB11 gene on chromosome 3.

Diagnosis

Genetic testing for ZBTB11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual developmental disorder, autosomal recessive 69.

1 publication has been identified in PubMed for intellectual developmental disorder, autosomal recessive 69. Research spans Case Report / Case Series (100%).

Recent Publications

Kharrat M (2024). [PMID: 38467738](https://pubmed.ncbi.nlm.nih.gov/38467738/). *J Hum Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618383

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 developmental disorder, autosomal recessive 69

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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