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Duane retraction syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene.
Uniprot Description A form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision.
Mondo Term and Equivalent IDs
MONDO:0011444:  Duane retraction syndrome 2
GARD:0009966: 
SCTID:128083007: