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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 ...
- ... 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 ...
- ... develop recurrent episodes of severe weakness, hypotonia, and abnormal breathing, which can be life threatening. By early ... in the general population. Affected individuals also have abnormal or absent reflexes (areflexia).Because of the nervous ...