craniofaciocardiohepatic syndrome
MONDO:0978295Mondo
Findings
No curated finding names craniofaciocardiohepatic syndrome 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
108 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.
- Abnormality of the coagulation cascadeHPOHP:0003256
- 1 of 1 reported patient
- Accelerated skeletal maturationHPOHP:0005616
- 2 of 2 reported patients
- Acute kidney injuryHPOHP:0001919
- 1 of 1 reported patient
- Acute respiratory distress syndromeHPOHP:0033677
- 1 of 1 reported patient
- AllergyHPOHP:0012393
- 1 of 1 reported patient
- Anal atresiaHPOHP:0002023
- 1 of 1 reported patient
- AnisocoriaHPOHP:0009916
- 1 of 1 reported patient
- AsthmaHPOHP:0002099
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 7 of 7 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 3 reported patients
- AutismHPOHP:0000717
- 2 of 2 reported patients
- Bicoronal synostosisHPOHP:0011318
- 1 of 1 reported patient
Show the remaining 96
- Bifid uvulaHPOHP:0000193
- 4 of 4 reported patients
- Bilateral alveolar cleft of maxillaHPOHP:0410034
- 1 of 1 reported patient
- Bilateral cleft lipHPOHP:0100336
- 4 of 4 reported patients
- Bilateral cleft palateHPOHP:0100337
- 5 of 5 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
Where it sits
- A kind of