autism spectrum disorder due to AUTS2 deficiency
Findings
No curated finding names autism spectrum disorder due to AUTS2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.
Definition from the Mondo Disease Ontology (MONDO:0014361), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
68 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.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 3 of 20 reported patients · Congenital onset
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Decreased palmar creasesHPOHP:0006184
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Deep philtrumHPOHP:0002002
- 1 of 1 reported patient
- Delayed fine motor developmentHPOHP:0010862
- 1 of 1 reported patient
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.
- AUTS2HGNC:14262
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: autism spectrum disorder due to AUTS2 deficiency
- Also called
- ASD due to AUTS2 deficiencyAUTS2 syndromeintellectual developmental disorder, autosomal dominant 26intellectual disability type 26mental retardation, autosomal dominant 26mental retardation, autosomal dominant type 26MRD26