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intellectual developmental disorder with impaired language and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with impaired language and dysmorphic facies

MONDO:0032851

Also known as:IDDILF

Overview

GeneticsAutosomal dominant · DDX6 (chr 11)

OnsetCONGENITAL, ANTENATAL

ResearchLimited published research (9 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: Intellectual disability, Global developmental delay, and Delayed speech and language development; and common findings: Epicanthus, Strabismus, Low muscle tone (hypotonia), and Hypertelorism and others. 48 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Intellectual disability, Global developmental delay, Delayed speech and language development

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.

DDX6 encodes DEAD-box helicase 6 (483 aa). Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions. Highest expression in Brain Cerebellar Hemisphere (74.6 TPM) and Ovary (68.4 TPM).

Intellectual developmental disorder with impaired language and dysmorphic facies is associated with mutations in the DDX6 gene on chromosome 11.

The DDX6 protein participates in Cap-dependent translation of DENV genomic RNA pathway.

DDX6 is classified as a druggable target (Clinically Actionable and Enzyme categories) with score 26.1.

Diagnosis

Genetic testing for DDX6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 20 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 with impaired language and dysmorphic facies.

9 publications have been identified in PubMed for intellectual developmental disorder with impaired language and dysmorphic facies. Research spans Case Report / Case Series (56%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (11%).

Recent Publications

Sadok SH (2026). [PMID: 42195008](https://pubmed.ncbi.nlm.nih.gov/42195008/). *Genes (Basel)*. [Epidemiology / Natural History]
Trujillano L (2025). [PMID: 39833101](https://pubmed.ncbi.nlm.nih.gov/39833101/). *Clin Genet*. [Epidemiology / Natural History]
Apicella M (2025). [PMID: 38963150](https://pubmed.ncbi.nlm.nih.gov/38963150/). *Clin Neuropsychol*. [Review / Meta-Analysis]
Zhang Q (2025). [PMID: 41230589](https://pubmed.ncbi.nlm.nih.gov/41230589/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Galli J (2025). [PMID: 39918173](https://pubmed.ncbi.nlm.nih.gov/39918173/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 10:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618653

GARD

Genetic and Rare Diseases Info Center

GARD:18520

Questions for Your Care Team

→Should I pursue genetic testing for DDX6, and what would the results mean for my family?
→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 with impaired language and dysmorphic facies

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

Questions for Your Care Team

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