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intellectual disability, autosomal recessive 66 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 66

MONDO:0032605

Also known as:intellectual developmental disorder, autosomal recessive 66MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66MRT66

Overview

GeneticsAutosomal recessive · FERRY3 (chr 12)

ResearchLimited published research (8 articles)

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, Global developmental delay, Attention deficit hyperactivity disorder, and Intellectual disability; and common findings: Joint hypermobility and Abnormal facial shape. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed speech and language development, Gait ataxia, Global developmental delay

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.

FERRY3 encodes FERRY endosomal RAB5 effector complex subunit 3 (552 aa). Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary). Highest expression in Brain Cerebellar Hemisphere (18.2 TPM) and Cells EBV-transformed lymphocytes (15.9 TPM).

Intellectual disability, autosomal recessive 66 is associated with mutations in the FERRY3 gene on chromosome 12.

FERRY3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FERRY3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 66 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 2 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 disability, autosomal recessive 66.

8 publications have been identified in PubMed for intellectual disability, autosomal recessive 66. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Chaabouni M (2026). [PMID: 41854122](https://pubmed.ncbi.nlm.nih.gov/41854122/). *Clin Genet*. [Diagnostic / Biomarker]
Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genet Med Open*. [Review / Meta-Analysis]
Li Y (2025). [PMID: 40050878](https://pubmed.ncbi.nlm.nih.gov/40050878/). *Ital J Pediatr*. [Case Report / Case Series]
Dilanthi HW (2025). [PMID: 39839200](https://pubmed.ncbi.nlm.nih.gov/39839200/). *JIMD Rep*. [Epidemiology / Natural History]
Ferretti A (2025). [PMID: 40674085](https://pubmed.ncbi.nlm.nih.gov/40674085/). *Epilepsia*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618221

GARD

Genetic and Rare Diseases Info Center

GARD:22579

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, autosomal recessive 66

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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