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GENATLAS PHENOTYPE
last update : 16/07/2008
Symbol FEOM2
Location 11q13.1
HGNC id 3653
Name congenital fibrosis of the extraocular muscles, 2
Other name(s) fibrosis of extraocular muscles, congenital
Corresponding gene PHOX2A
Other symbol(s) CFEOM2
Main clinical features
  • complex strabismus syndrome, bilateral ptosis and external ophthalmoplegia with the globes frozen in extreme abduction, exotropia with almost complete bilateral absence of adduction, elevation, depression and intorsion . at neuroimaging of brain and brainstem, anatomical absence of cranial nerve (CN) 3 and probably CN 4 bilaterally . primary neurogenic abnormality with secondary myopathic changes
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name paired-like (aristaless) homeobox 2a
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    Remark(s) abnormal developement developement of cranial nerves III (oculomotor) and IV(trochlear)