intellectual disability, autosomal dominant 53
MONDO:0030919Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 53 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
43 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.
- Intellectual disabilityHPOHP:0001249
- 14 of 14 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 13 of 14 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 12 of 14 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 14 reported patients
- HypotoniaHPOHP:0001252
- 7 of 14 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 14 reported patients
- EEG abnormalityHPOHP:0002353
- 2 of 14 reported patients
- Involuntary movementsHPOHP:0004305
- 2 of 14 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 14 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 14 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 14 reported patients · Infantile onset
- Blue nevusHPOHP:0100814
- 1 of 14 reported patients
Show the remaining 31
- BrachycephalyHPOHP:0000248
- 1 of 14 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 14 reported patients
- Duodenal atresiaHPOHP:0002247
- 1 of 14 reported patients
- EpicanthusHPOHP:0000286
- 1 of 14 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 14 reported patients
- Frontal upsweep of hairHPOHP:0002236
- 1 of 14 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.
- CAMK2AHGNC:1460
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2017