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intellectual disability, autosomal recessive 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, autosomal recessive 3

MONDO:0012037

Also known as:CC2D1A autosomal recessive non-syndromic intellectual disabilityMRT3autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A

Overview

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.

GeneticsAutosomal recessive · CC2D1A (chr 19)

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, Short attention span, and Hyperactivity and others; and sometimes findings: Progressive microcephaly. 8 total HPO annotations.

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

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.

CC2D1A encodes coiled-coil and C2 domain containing 1A (951 aa). Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells.

Intellectual disability, autosomal recessive 3 is associated with mutations in the CC2D1A gene on chromosome 19.

CC2D1A is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for CC2D1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, autosomal recessive 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present 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 3.

91 publications have been identified in PubMed for intellectual disability, autosomal recessive 3. Research spans Case Report / Case Series (43%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	36	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608443

GARD

Genetic and Rare Diseases Info Center

GARD:22539

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 disability, autosomal recessive 3

Overview

Clinical Presentation

Genetic Landscape

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 recessive 3

Overview

Clinical Presentation

Genetic Landscape

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