cardiofacioneurodevelopmental syndrome
MONDO:0030873Mondo
Findings
No curated finding names cardiofacioneurodevelopmental syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
23 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.
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Cleft lipHPOHP:0410030
- 2 of 2 reported patients
- Cleft palateHPOHP:0000175
- 2 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Protruding earHPOHP:0000411
- 2 of 2 reported patients
- Abdominal situs inversusHPOHP:0003363
- 1 of 2 reported patients
- Abnormal dermatoglyphicsHPOHP:0007477
- 1 of 2 reported patients
- Aplasia/Hypoplasia of the nailsHPOHP:0008386
- 1 of 2 reported patients
Show the remaining 11
- AspleniaHPOHP:0001746
- 1 of 2 reported patients
- Atrioventricular canal defectHPOHP:0006695
- 1 of 2 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 2 reported patients
- CamptodactylyHPOHP:0012385
- 1 of 2 reported patients
- HypertelorismHPOHP:0000316
- 1 of 2 reported patients
- HypotelorismHPOHP:0000601
- 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.
- HGNC:28295HGNC:28295
- Strong · G2P · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Moderate · Illumina · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: cardiofacioneurodevelopmental syndrome
- Also called
- CFNDS