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abnormal involuntary movement
- ... are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the ...
- ... muscles after voluntary tensing (contraction), muscle cramps, and involuntary rippling movement of the muscles (myokymia). Autosomal recessive axonal neuropathy ...
- ... can be treated. Other features can include spasticity, involuntary jerking movements (chorea), or hyperactivity.Individuals with nonketotic hyperglycinemia can ...
- ... cataracts), increased pressure in the eyes (glaucoma), and involuntary eye movements (nystagmus). Abnormalities of the genitalia and urinary tract ( ...
- ... do not look in the same direction (strabismus), involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia). Congenital ... production of a defective version of decorin. This abnormal protein interferes with the organization of collagen fibrils ...
- ... clouding of the lens of the eye (cataracts), involuntary eye movements (nystagmus), and inflammation of the front surface of ...
- ... ataxia). Vision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. ...
- ... communication using body language, gestures, and signs. Seizures, involuntary side-to-side movements of the eyes (nystagmus), eyes that do not ... people with UNC80 deficiency include a short neck, abnormal curvature of the spine (scoliosis), permanently bent joints ( ...
- ... lip, a small jaw, low-set ears, and abnormal lower eyelids. In most affected individuals, the middle ... Wiedemann-Rautenstrauch syndrome lead to the production of abnormal subunits. These abnormal subunits may not be able ...
- ... apparent from birth, and its key features include abnormal curvature (bowing) of the long bones in the ... Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of the spine (scoliosis), and spontaneous bone ...