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nystagmus 1, congenital, X-linked

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene.
Uniprot Description A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.
Mondo Term and Equivalent IDs
MONDO:0010693:  nystagmus 1, congenital, X-linked
GARD:0002969: 
UMLS:C1839580: