intellectual disability, autosomal dominant 9
Findings
No curated finding names intellectual disability, autosomal dominant 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.
Definition from the Mondo Disease Ontology (MONDO:0013656), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Cerebellar vermis atrophyHPOHP:0006855
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 14 of 14 reported patients
- Intellectual disabilityHPOHP:0001249
- 15 of 15 reported patients
- SpasticityHPOHP:0001257
- 13 of 14 reported patients
- Delayed speech and language developmentHPO
Show the remaining 3
- MicrocephalyHPOHP:0000252
- 4 of 14 reported patients
- AtaxiaHPOHP:0001251
- 3 of 12 reported patients
- SeizureHPOHP:0001250
- 3 of 13 reported patients
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.
- KIF1AHGNC:888
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2017
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal dominant 9
- Also called
- autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1Aintellectual disability, autosomal dominant type 9KIF1A autosomal dominant non-syndromic intellectual disabilitymental retardation, autosomal dominant type 9MRD9NESCAV syndrome