FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2

General Information (adopted from Orphanet):

Synonyms, Signs: FEOM2 LOCUS
CFEOM2
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, AUTOSOMAL RECESSIVE
Number of Symptoms 11
OrphanetNr:
OMIM Id: 602078
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0007936) Restrictive external ophthalmoplegia 3 / 7739
2
 (HPO:0001488) Bilateral ptosis 42 / 7739
3
 (HPO:0000505) Visual impairment 297 / 7739
4
 (HPO:0000646) Amblyopia 42 / 7739
5
 (HPO:0000577) Exotropia 43 / 7739
6
 (HPO:0001491) Congenital fibrosis of extraocular muscles 9 / 7739
7
 (OMIM) Unilateral hypotropia 1 / 7739
8
 (OMIM) Severe limitations of eye movements 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (OMIM) Unilateral hypertropia 1 / 7739
11
 (OMIM) Eyes fixed in extreme abduction (exotropia strabismus fixus) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Engle et al. (1997) observed CFEOM in members of 3 consanguineous Saudi Arabian families and demonstrated an autosomal recessive pattern of inheritance. This form of CFEOM differed by showing features suggesting a defect in the superior and inferior ...
Molecular genetics OMIM Nakano et al. (2001) identified splice site and point mutations in the ARIX gene (see 602753.0001-602753.0003) in 4 pedigrees with CFEOM2.