developmental delay with autism spectrum disorder and gait instability
Findings
No curated finding names developmental delay with autism spectrum disorder and gait instability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.
Definition from the Mondo Disease Ontology (MONDO:0014224), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Delayed ability to walkHPOHP:0031936
- 7 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 6 of 7 reported patients
- Unsteady gaitHPOHP:0002317
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.
- HERC2HGNC:4868
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: developmental delay with autism spectrum disorder and gait instability
- Also called
- developmental delay with ASD and gait instabilityintellectual developmental disorder, autosomal recessive 38intellectual disability, autosomal recessive type 38mental retardation, autosomal recessive type 38