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Cerebral hypoplasia
- ... this tissue, a condition known as leukodystrophy. These brain abnormalities caused by a lack of folate lead to the intellectual disability, movement problems, and recurrent seizures (epilepsy) typical of cerebral folate transport deficiency. More About This Health Condition ...
- ... in males. People with L1 syndrome often have brain abnormalities, intellectual disability, and movement problems. The L1CAM gene mutations that cause this condition lead to an L1 protein that cannot ... and development of the brain, leading to the signs and symptoms of L1 ...
- ... that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms. The mutations that cause this condition change single ... Because the brain relies solely on cellular production for cholesterol, it ...
- ... deficiency) of RAB18 activity leads to eye problems, brain abnormalities, and other features of Warburg micro syndrome. More ...
- ... facial features and intellectual disability. Many also have brain abnormalities and features of autism spectrum disorders, which are ...
- ... before birth may cause microcephaly and the underlying brain abnormalities found in people with microcephaly-capillary malformation syndrome. ...
- ... Joubert syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye ...
- ... syndrome. This rare condition is characterized by certain brain abnormalities, the presence of extra fingers and toes (polydactyly), ...
- ... large brain and head size (megalencephaly) and a brain abnormality called bilateral perisylvian polymicrogyria (BPP). Some affected individuals ...
- ... gyri), and the folds are unusually small. These brain abnormalities cause intellectual disability and the other neurological problems ...
