intellectual disability, autosomal dominant 13
Findings
No curated finding names intellectual disability, autosomal dominant 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013805), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
25 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.
- Broad footHPOHP:0001769
- 1 of 1 reported patient
- Broad palmHPOHP:0001169
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Facial hypotoniaHPOHP:0000297
- 1 of 1 reported patient
- Focal cortical dysplasiaHPOHP:0032046
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
Show the remaining 13
- Tip-toe gaitHPOHP:0030051
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 7 of 8 reported patients
- PachygyriaHPOHP:0001302
- 9 of 11 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 7 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 11 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.
- DYNC1H1HGNC:2961
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal dominant 13
- Also called
- autosomal dominant intellectual disability 13autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1DYNC1H1 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant 13, with neuronal migration defectsintellectual disability, autosomal dominant type 13mental retardation, autosomal dominant type 13MRD13