congenital heart defects and ectodermal dysplasia
MONDO:0044303Mondo
Findings
No curated finding names congenital heart defects and ectodermal dysplasia 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
27 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.
- Atrioventricular canal defectHPOHP:0006695
- 2 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 3 reported patients
- Sparse scalp hairHPOHP:0002209
- 2 of 3 reported patients
- Widely spaced teethHPOHP:0000687
- 2 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 1 of 3 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 3 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 3 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 3 reported patients
- Broad thumbHPOHP:0011304
- 1 of 3 reported patients
- Deep plantar creasesHPOHP:0001869
- 1 of 3 reported patients
Show the remaining 15
- Depressed nasal bridgeHPOHP:0005280
- 1 of 3 reported patients
- Dry skinHPOHP:0000958
- 1 of 3 reported patients
- Fragile nailsHPOHP:0001808
- 1 of 3 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 3 reported patients
- High anterior hairlineHPOHP:0009890
- 1 of 3 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.
- PRKD1HGNC:9407
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of