Synonym(s): (no synonyms)
Classification (Orphanet): - Rare bone disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
AGGF1	Q8N302	608464

- Anomalies of bones / skeletal anomalies
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Varices / varicous veins / venous insufficiency

- Autosomal dominant inheritance
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Pulmonary thromboembolism
- Tall stature / gigantism / growth acceleration
- Venous thrombosis / phlebitis / thrombophlebitis

- Ascitis
- Atrial septal defect / interauricular communication
- Blood hyperviscosity / hypercoagulability
- Cutaneous edema
- Heart / cardiac failure
- Hematuria / microhematuria
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hydrops fetalis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Internal hemorrhage
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Microcephaly
- Microcytic anemia
- Patent ductus arteriosus
- Peripheral arteriovenous fistula
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skull / cranial anomalies
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly