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intellectual developmental disorder with speech delay, autism, and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with speech delay, autism, and dysmorphic facies

MONDO:0032864

Also known as:IDDSADF

Overview

GeneticsAutosomal dominant · CNOT3 (chr 19)

ResearchLimited published research (4 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 very common findings: Delayed ability to walk; and common findings: Low muscle tone (hypotonia), Prominent forehead, and Autistic behavior. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Delayed fine motor development, Depressed nasal ridge, Intellectual disability

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.

CNOT3 encodes CCR4-NOT transcription complex subunit 3 (753 aa). Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation.

Intellectual developmental disorder with speech delay, autism, and dysmorphic facies is associated with mutations in the CNOT3 gene on chromosome 19.

CNOT3 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Diagnosis

Genetic testing for CNOT3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 3 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 speech delay, autism, and dysmorphic facies.

4 publications have been identified in PubMed for intellectual developmental disorder with speech delay, autism, and dysmorphic facies. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Ariyasu D (2026). [PMID: 42117603](https://pubmed.ncbi.nlm.nih.gov/42117603/). *Am J Med Genet A*. [Case Report / Case Series]
Caulier G (2025). [PMID: 41459743](https://pubmed.ncbi.nlm.nih.gov/41459743/). *Nucleic Acids Res*. [Review / Meta-Analysis]
Chenyue Z (2025). [PMID: 40603987](https://pubmed.ncbi.nlm.nih.gov/40603987/). *Sci Rep*. [Basic Science / Preclinical]
Pan M (2024). [PMID: 39216073](https://pubmed.ncbi.nlm.nih.gov/39216073/). *J Int Med Res*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618672

Questions for Your Care Team

→Should I pursue genetic testing for CNOT3, 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 speech delay, autism, and dysmorphic facies

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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