Presentation
Eyes
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Anisocoria
[…] blindness Achromatopsia Dichromacy Monochromacy Nyctalopia Oguchi disease Blindness / Vision loss / Visual impairment Anopsia Hemianopsia binasal bitemporal homonymous Quadrantanopia subjective Asthenopia Hemeralopia Photophobia Scintillating scotoma Pupil Anisocoria [worldlibrary.org]
Neurologic
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Myokymia
( COL9A3) Epiphyseal dysplasia, multiple, 4 ( SLC26A2) Epiphyseal dysplasia, multiple, 5 ( MATN3) Epiphyseal dysplasia, multiple, with myopia and deafness ( COL2A1) Episodic ataxia, type 2 ( CACNA1A) Episodic ataxia, type 6 ( SLC1A3) Episodic ataxia/myokymia [en.praenatal-medizin.de]