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autism spectrum disorder - epilepsy - arthrogryposis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autism spectrum disorder - epilepsy - arthrogryposis syndrome

MONDO:0014248

Also known as:SLC35A3-CDGarthrogryposis, impaired intellectual development, and seizuresAMRS

Overview

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

GeneticsAutosomal recessive · SLC35A3 (chr 1)

OnsetCONGENITAL

ResearchLimited published research (3 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: Camptodactyly of finger, Acetabular dysplasia, and Autistic behavior; and common findings: Focal motor seizure, Intellectual disability, Knee dislocation, and Mild intellectual disability. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Generalized non-motor (absence) seizure, Global developmental delay, Autistic behavior

Genetic Landscape

SLC35A3 function has not been fully characterized.

Autism spectrum disorder - epilepsy - arthrogryposis syndrome is associated with mutations in the SLC35A3 gene on chromosome 1.

Diagnosis

Genetic testing for SLC35A3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 autism spectrum disorder - epilepsy - arthrogryposis syndrome.

3 publications have been identified in PubMed for autism spectrum disorder - epilepsy - arthrogryposis syndrome. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Quelhas D (2026). [PMID: 41554664](https://pubmed.ncbi.nlm.nih.gov/41554664/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]
Mencacci NE (2025). [PMID: 40385417](https://pubmed.ncbi.nlm.nih.gov/40385417/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]
Ouidja MO (2024). [PMID: 39630030](https://pubmed.ncbi.nlm.nih.gov/39630030/). *Essays in biochemistry*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615553

Orphanet

European rare disease database

Orphanet:370943

GARD

Genetic and Rare Diseases Info Center

GARD:17604

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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autism spectrum disorder - epilepsy - arthrogryposis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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