intellectual disability, autosomal dominant 46
MONDO:0030911Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 46 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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 speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Absent speechHPOHP:0001344
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- Unsteady gaitHPOHP:0002317
- 2 of 4 reported patients
- Brain atrophyHPOHP:0012444
- 1 of 4 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 1 of 4 reported patients
- Fetal distressHPOHP:0025116
- 1 of 4 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 4 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 4 reported patients
- Tonic seizureHPOHP:0032792
- 1 of 4 reported patients
Show the remaining 2
- Tube feedingHPOHP:0033454
- 1 of 4 reported patients
- Global developmental delayHPOHP:0001263
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.
- KCNQ5HGNC:6299
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025