intellectual disability, autosomal dominant 45
MONDO:0030910Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 45 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 · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
30 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.
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 2 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 6 reported patients
- AnxietyHPOHP:0000739
- 1 of 5 reported patients
- ArachnodactylyHPOHP:0001166
- 1 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 5 reported patients
- Cerebral palsyHPOHP:0100021
- 1 of 5 reported patients
- ChoreaHPOHP:0002072
- 1 of 5 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 5 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 5 reported patients
Show the remaining 18
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 5 reported patients
- Heart murmurHPOHP:0030148
- 1 of 5 reported patients
- HyperactivityHPOHP:0000752
- 1 of 5 reported patients
- HypotoniaHPOHP:0001252
- 1 of 5 reported patients
- Motor stereotypyHPOHP:0000733
- 1 of 5 reported patients
- Myoclonic seizureHPOHP:0032794
- 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.
- CICHGNC:14214
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2022