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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
19 signs/symptoms
Situs ambiguus
Acrocallosal syndrome

ACVR2B GLI3
CCDC11 KIF7
CFC1
LEFTY2
NODAL
ZIC3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ZIC3
(0.82)
GLI3



Citations in the biomedical literature:


Situs ambiguus
ACVR2B CCDC11 CFC1 LEFTY2 NODAL ZIC3

Acrocallosal syndrome
GLI3 KIF7



Situs ambiguus
Acrocallosal syndrome

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

Synonym(s):
- ACS

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
- Rare neurologic disease

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

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

Acrocallosal syndrome

Very frequent
- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)

Frequent
- Dandy-Walker anomaly
- Fingerlike / triphalangeal thumb
- Prominent occiput / occipital bossing
- Sloping forehead

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clavicle absent / abnormal
- Diaphragmatic hernia / defect / agenesis
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Large fontanelle / delayed fontanelle closure
- Sensorineural deafness / hearing loss
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Situs ambiguus

(no data available)