Results 31 -
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520
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Congenital defects
- ... segment of the eye, leading to the eye abnormalities characteristic of Axenfeld-Rieger syndrome. In some cases, ... have been reported in a few people with abnormalities of brain development. Mutations that change single protein ...
- ... TUBB4A-related leukodystrophy. This disorder is characterized by abnormalities of the white matter, particularly a reduced ability ... atrophy) of brain tissue in these regions, movement abnormalities, difficulty swallowing and speaking, and learning problems.The ...
- ... and other distinctive facial features; short bones; and abnormalities of certain tissues known as ectodermal tissues, which ... leads to a smaller number of cilia and abnormalities in their shape and structure. Although the mechanism ...
- ... TREM2 signaling in osteoclasts and microglia. The bone abnormalities seen in people with this disorder are probably ... signaling through the TYROBP-TREM2 complex causes widespread abnormalities of microglia. Researchers are working to determine how ...
- ... between the fingers and toes (cutaneous syndactyly), and abnormalities of the kidneys and other organs and tissues. ... of the FRAS/FREM complex leads to kidney abnormalities and other problems in Fraser syndrome. More About ...
- ... gene cause CHOPS syndrome, a disorder involving multiple abnormalities that are present from birth (congenital). The name " ... obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.The AFF4 gene mutations identified in people with ...
- ... Walker-Warburg syndrome have skeletal muscle weakness and abnormalities of the brain and eyes. Because of the ... this problem with neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of ...
- ... fingernails and toenails (nail dystrophy).Researchers have described abnormalities of the central nervous system in at least ... is not yet known whether central nervous system abnormalities are a common feature of this condition. It ...
- ... developmental delay, eye defects, neurological problems, and blood abnormalities. Individuals with this form also have severe abnormalities in the development of the skull and face ( ...
- ... involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis type1 (described above), NPHP1 gene ...
