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Hypoplasia of the optic tract
- ... PAX2 gene have been found in people with abnormalities of the kidneys and other structures of the ... renal coloboma syndrome (described above). The urinary system abnormalities vary in severity and are grouped together as ...
- ... small head size (microcephaly), and some have structural abnormalities of the brain. Affected individuals have weak muscle ... individuals never acquire the ability to speak.Eye abnormalities and their effect on vision vary among people ...
- ... of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, ... Citation on PubMed Kanki T, Klionsky DJ. Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. Cell ...
- ... Citation on PubMed Kanki T, Klionsky DJ. Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. Cell ...
- ... development of the movement problems and other neurological abnormalities that occur in FAHN. Iron accumulation in the ...
- ... the retina). The vision problems caused by these abnormalities can vary depending on the size and location ... spinal cord (central nervous system), kidneys, and genital tract. The PAX2 protein attaches ... Coloboma of optic nerve with renal disease Coloboma-ureteral-renal syndrome ...