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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Situs ambiguus
Fibular aplasia - complex brachydactyly

ACVR2B GDF5
CCDC11
CFC1
LEFTY2
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACVR2B
(0.73)
GDF5



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

Fibular aplasia - complex brachydactyly
GDF5



Situs ambiguus
Fibular aplasia - complex brachydactyly

Synonym(s):
- Incomplete situs inversus
- Partial situs inversus
- Situs ambiguous

Synonym(s):
- Du Pan syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Fibular aplasia - complex brachydactyly

Very frequent
- Autosomal recessive inheritance
- Carpal bones fusion / synostosis
- Epiphyseal anomaly
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Narrow nasal bridge
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism
- Simian crease / transverse / unique palmar crease
- Tarsal anomaly / fusion / synostosis
- Thumb anomalies (excluding hypoplasia)
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray



Situs ambiguus

(no data available)