Presentation
Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S. [globalgenes.org]
Megalocornea is present at birth (congenital) and usually is bilateral. Although the cornea is abnormally enlarged, it is otherwise normal in structure, curvature and thickness. [rarediseases.org]
Cockayne syndrome type 3 Coffin-Lowry syndrome Coffin-Siris syndrome Cohen syndrome Cole-Carpenter syndrome Congenital absence of both forearm and hand Congenital absence of both lower leg and foot Congenital absence of thigh and lower leg with foot present [se-atlas.de]
Neurologic
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Poor Coordination
In addition to eye abnormalities, affected individuals may also have neurological abnormalities including diminished muscle tone (hypotonia), delays in speech development, varying degrees of cognitive impairment, poor coordination and clumsiness, and [rarediseases.org]
Treatment
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]