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364
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Cerebral hypoplasia
- ... health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, ... an increased risk of brain damage or skull fractures if any trauma is ...
- ... People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, and a ...
- ... features of Shprintzen-Goldberg syndrome include heart or brain abnormalities, weak muscle tone (hypotonia) in infancy, and a ...
- ... can lead to increased head size and related brain abnormalities. Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. ... and maintenance of bone and brain tissue. Two specific variants in the FGFR3 gene ...
- ... condition is unknown. Some affected individuals have a brain abnormality that may contribute to the condition. Researchers suspect that changes in other, unidentified genes may also be associated with ... in the brain. Signaling through these receptors is involved in normal ...
- ... different patterns of neural connection. The neuron and brain abnormalities occur in the frontal and temporal lobes of ...
- ... isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic ...
- ... include changes in vision, changes in intellectual functioning, brain abnormalities, and disturbances in nerve function (neuropathy). Spastic paraplegia ...
- ... of deoxyguanosine kinase deficiency can have heart problems, brain abnormalities, or weakness of the eye muscles. People with ...
- ... and engaging personality. Some people with trichothiodystrophy have brain abnormalities that can be seen with imaging tests. A ...