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intellectual developmental disorder, autosomal recessive 81 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, autosomal recessive 81

MONDO:0958204

Overview

GeneticsAutosomal recessive · ASCC3 (chr 6)

ResearchLimited published research (5 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: Mild intellectual disability and Delayed gross motor development; and very common findings: Delayed ability to walk. 54 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Mild intellectual disability, Seizure, Obsessive-compulsive trait

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.

ASCC3 encodes activating signal cointegrator 1 complex subunit 3 (2,202 aa). ATPase involved both in DNA repair and rescue of stalled ribosomes. Highest expression in Cells Cultured fibroblasts (32.5 TPM) and Cells EBV-transformed lymphocytes (25.3 TPM).

Intellectual developmental disorder, autosomal recessive 81 is associated with mutations in the ASCC3 gene on chromosome 6.

The ASCC3 protein participates in Oxidative demethylation of 1-meA damaged DNA By ALKBH3 pathway.

ASCC3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ASCC3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 12 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 81.

5 publications have been identified in PubMed for intellectual developmental disorder, autosomal recessive 81. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Recent Publications

Vinci M (2026). [PMID: 41207646](https://pubmed.ncbi.nlm.nih.gov/41207646/). *Gene*. [Case Report / Case Series]
Webb BD (2025). [PMID: 40662098](https://pubmed.ncbi.nlm.nih.gov/40662098/). *Genet Med Open*. [Review / Meta-Analysis]
Araújo S (2025). [PMID: 39688442](https://pubmed.ncbi.nlm.nih.gov/39688442/). *JBRA Assist Reprod*. [Basic Science / Preclinical]
Mu D (2024). [PMID: 39533347](https://pubmed.ncbi.nlm.nih.gov/39533347/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Dolu MH (2024). [PMID: 39051604](https://pubmed.ncbi.nlm.nih.gov/39051604/). *J Child Neurol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620700

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 developmental disorder, autosomal recessive 81

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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