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Optic nerve hypoplasia
- ... They may also have increased pressure in the eye (glaucoma) or abnormalities in the specialized light-sensitive tissue that lines the back of the eye (retina). Individuals with Fukuyama congenital muscular dystrophy often ...
- ... increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus). Abnormalities of the genitalia and urinary tract (genitourinary anomalies) ...
- ... intellectual disability, seizures, weak muscle tone (hypotonia), and eye and vision abnormalities. Another condition called Elejalde disease has many of ...
- ... dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat ( ...
- ... muscle tone (hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, brain, heart, and kidneys may also be present. ...
- ... roof of the mouth (a cleft palate), abnormal eye movements, hearing loss, and abnormalities of tooth development. Some affected individuals have a ...
- ... features in people with PURA syndrome can include abnormalities of the heart, eyes, urogenital tract, gastrointestinal tract, and skeleton. Some affected ...
- ... sleeping, which can result in dry or irritated eyes.Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone ( ...
- ... less AChR is present, which reduces signaling between nerve and muscle cells. These signaling abnormalities lead to decreased muscle movement and the muscle ...
- ... and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration of both hips at an early ...