intellectual disability, autosomal dominant 58
MONDO:0020847Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 58 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
HPO, annotations 2026-09-02
Features
36 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
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypertelorismHPOHP:0000316
- 2 of 5 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 5 reported patients
- Brisk reflexesHPOHP:0001348
- 1 of 5 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 5 reported patients
- Dental crowdingHPOHP:0000678
- 1 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 5 reported patients
- Facial asymmetryHPOHP:0000324
- 2 of 10 reported patients
- Facial hypotoniaHPOHP:0000297
- 1 of 5 reported patients
- FallsHPOHP:0002527
- 1 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 5 reported patients
Show the remaining 24
- Few cafe-au-lait spotsHPOHP:0007429
- 1 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 10 reported patients
- Hypernasal speechHPOHP:0001611
- 1 of 5 reported patients
- Hypoplastic fifth toenailHPOHP:0011937
- 1 of 5 reported patients
- HypotoniaHPOHP:0001252
- 1 of 5 reported patients
- IncoordinationHPOHP:0002311
- 1 of 5 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.
- SETHGNC:10760
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
Where it sits
Other names
2 names
Resolves to: intellectual disability, autosomal dominant 58
- Also called
- MENTAL RETARDATION, autosomal dominant 58MRD58