intellectual disability, autosomal dominant 57
MONDO:0054837Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 57 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
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.
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Pointed chinHPOHP:0000307
- 2 of 2 reported patients
- PtosisHPOHP:0000508
- 2 of 2 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 2 of 2 reported patients
- Absent fourth finger distal interphalangeal creaseHPOHP:0005780
- 1 of 2 reported patients
- AnxietyHPOHP:0000739
- 1 of 2 reported patients
- BlepharophimosisHPOHP:0000581
- 1 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 2 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 2 reported patients
Show the remaining 18
- ConstipationHPOHP:0002019
- 1 of 2 reported patients
- Contracture of the proximal interphalangeal joint of the 4th fingerHPOHP:0009276
- 1 of 2 reported patients
- EpicanthusHPOHP:0000286
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
- Frequent temper tantrumsHPOHP:0025161
- 1 of 2 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.
- TLK2HGNC:11842
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
Other names
3 names
Resolves to: intellectual disability, autosomal dominant 57
- Also called
- intellectual developmental disorder, autosomal dominant 57TLK2-Related Neurodevelopmental DisorderTLK2-related syndrome