intellectual disability, autosomal dominant 54
MONDO:0030920Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 54 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
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
59 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.
- Global developmental delayHPOHP:0001263
- 8 of 10 reported patients
- HypotoniaHPOHP:0001252
- 6 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 10 reported patients
- Chronic constipationHPOHP:0012450
- 4 of 10 reported patients
- IrritabilityHPOHP:0000737
- 4 of 10 reported patients
- Absent speechHPOHP:0001344
- 3 of 10 reported patients
- ApneaHPOHP:0002104
- 3 of 10 reported patients
- Reduced eye contactHPOHP:0000817
- 3 of 10 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 10 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 10 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 2 of 10 reported patients
- EsotropiaHPOHP:0000565
- 2 of 10 reported patients
Show the remaining 47
- Gastroesophageal refluxHPOHP:0002020
- 2 of 10 reported patients
- Growth delayHPOHP:0001510
- 2 of 10 reported patients
- Persistent head lagHPOHP:0032988
- 2 of 10 reported patients
- SeizureHPOHP:0001250
- 4 of 20 reported patients
- StrabismusHPOHP:0000486
- 2 of 10 reported patients
- AnhidrosisHPOHP:0000970
- 1 of 10 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.
- CAMK2BHGNC:1461
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025