cardiac, facial, and digital anomalies with developmental delay
MONDO:0032572Mondo
Findings
No curated finding names cardiac, facial, and digital anomalies with developmental delay 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
70 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
- 5 of 5 reported patients
- BlepharophimosisHPOHP:0000581
- 33 of 42 reported patients
- Motor delayHPOHP:0001270
- 34 of 47 reported patients
- Thickened nuchal skin foldHPOHP:0000474
- 5 of 7 reported patients
- Wide intermamillary distanceHPOHP:0006610
- 5 of 7 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 33 of 47 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 4 of 7 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 28 of 49 reported patients
- Short neckHPOHP:0000470
- 24 of 42 reported patients
- Feeding difficultiesHPOHP:0011968
- 27 of 49 reported patients
- Intellectual disabilityHPOHP:0001249
- 23 of 42 reported patients
- Hearing impairmentHPOHP:0000365
- 26 of 49 reported patients
Show the remaining 58
- EpicanthusHPOHP:0000286
- 25 of 49 reported patients
- PtosisHPOHP:0000508
- 23 of 49 reported patients
- Abnormal number of hair whorlsHPOHP:0010813
- 3 of 7 reported patients
- ClinodactylyHPOHP:0030084
- 3 of 7 reported patients
- Tethered cordHPOHP:0002144
- 3 of 7 reported patients
- Bulbous noseHPOHP:0000414
- 17 of 42 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.
- TRAF7HGNC:20456
- Definitive · Ambry Genetics · Autosomal dominant · 2020
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: cardiac, facial, and digital anomalies with developmental delay
- Also called
- CAFDADDTRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome