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intellectual disability, autosomal dominant 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal dominant 2

MONDO:0013581

Also known as:DOCK8 autosomal dominant non-syndromic intellectual disabilityMRD2autosomal dominant intellectual disability 2

Overview

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.

GeneticsAutosomal dominant

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, and Intellectual disability; and common findings: Prominent fingertip pads, Absent speech, Seizure, and Deeply set eye and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Delayed speech and language development, Absent speech, Seizure

Diagnosis

Biomarker and diagnostic research for intellectual disability, autosomal dominant 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 disability, autosomal dominant 2.

120 publications have been identified in PubMed for intellectual disability, autosomal dominant 2. Research spans Case Report / Case Series (58%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Patient case studies	62	58%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614113

GARD

Genetic and Rare Diseases Info Center

GARD:16458

Questions for Your Care Team

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Kisho

intellectual disability, autosomal dominant 2

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, autosomal dominant 2

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications