nystagmus 1—congenital—X-linked

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nystagmus 1—congenital—X-linked2016-11-27T15:10:00+00:00

nystagmus 1—congenital—X-linked

NEUROLOGY, OPHTHALMOLOGY

An X-linked condition (OMIM:310700) characterised by conjugated, spontaneous and involuntary ocular oscillations–nystagmus, appearing at or shortly after birth. Other features include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.

Molecular pathology Defects of FRMD7, which encodes a protein that plays a role in neurite development, and possibly also in controlling eye movement and gaze stability, cause nystagmus 1—congenital—X-linked.

Synonyms Nystagmus—congenital motor 1, nystagmus—infantile idiopathic—formerly, nystagmus—infantile periodic alternating—X-linked—included, nystagmus 1—infantile—X-linked, IIN—formerly, XIPAN–included, XLPAN–included 

Reference http://www.uniprot.org/uniprot/Q6ZUT3

http://www.omim.org/entry/310700

 

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