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intellectual developmental disorder, autosomal recessive 67 (MRT67) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 67

MONDO:0032662

Also known as:MRT67Mental Retardation, Autosomal Recessive 67

Overview

GeneticsAutosomal recessive · EIF3F (chr 11)

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: Delayed speech and language development and Global developmental delay; and common findings: Microcephaly, Short stature, Delayed ability to walk, and Low muscle tone (hypotonia) and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Absent speech, Loss of previously acquired skills (developmental regression)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EIF3F encodes eukaryotic translation initiation factor 3 subunit F (357 aa). Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. Highest expression in Ovary (113.9 TPM) and Cells Cultured fibroblasts (102.2 TPM).

Intellectual developmental disorder, autosomal recessive 67 is associated with mutations in the EIF3F gene on chromosome 11.

EIF3F is classified as a druggable target (Protease category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for EIF3F is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, autosomal recessive 67 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 7 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 67.

10 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 67. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (30%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Research summaries	3	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618295

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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Kisho

intellectual developmental disorder, autosomal recessive 67

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual developmental disorder, autosomal recessive 67

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications