congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
MONDO:0044302Mondo
Findings
No curated finding names congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 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
62 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 ability to sitHPOHP:0025336
- 6 of 6 reported patients
- Delayed ability to walkHPOHP:0031936
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 5 reported patients
- Atrial septal defectHPOHP:0001631
- 5 of 7 reported patients
- ClinodactylyHPOHP:0030084
- 5 of 7 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 5 of 7 reported patients
- HypertelorismHPOHP:0000316
- 4 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 7 reported patients
- HypotoniaHPOHP:0001252
- 3 of 7 reported patients
Show the remaining 50
- Joint hypermobilityHPOHP:0001382
- 3 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 7 reported patients
- Narrow mouthHPOHP:0000160
- 3 of 7 reported patients
- StrabismusHPOHP:0000486
- 3 of 7 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 7 reported patients
- Short statureHPOHP:0004322
- 2 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.
- CDK13HGNC:1733
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
- Also called
- CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome