autism spectrum disorder - epilepsy - arthrogryposis syndrome
Findings
No curated finding names autism spectrum disorder - epilepsy - arthrogryposis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0014248), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acetabular dysplasiaHPOHP:0008807
- 8 of 8 reported patients · Congenital onset
- Autistic behaviorHPOHP:0000729
- 8 of 8 reported patients
- Obligate (100% of cases)
- Camptodactyly of fingerHPOHP:0100490
- 8 of 8 reported patients · Congenital onset
- Hip dislocationHPOHP:0002827
- 8 of 8 reported patients · Congenital onset
- Occasional (5% to 29% of cases)
- Knee dislocationHPOHP:0004976
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC35A3HGNC:11023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: autism spectrum disorder - epilepsy - arthrogryposis syndrome
- Also called
- arthrogryposis, impaired intellectual development, and seizuresSLC35A3-CDG