Results 11 -
20
of
70
for
ear disorders
- ... vessels in the retina and in the inner ear. Variants (also called mutations) in the FZD4 gene have been identified in people with an eye disorder called familial exudative vitreoretinopathy. This disorder affects the ...
- ... involved in the normal function of the inner ear. Variants (also known as mutations) in the EDNRB gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the ...
- ... involved in the normal function of the inner ear. Variants (also known as mutations) in the EDN3 gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the ...
- ... to form the structures that make up the ears, skeleton, organs, and glands in the eyes and mouth. At least three mutations in the FGF10 gene have been found to cause lacrimo-auriculo-dento-digital (LADD) syndrome. This disorder affects the formation of the lacrimal system (the ...
- ... ClC-Kb are also found in the inner ear, where they play a role in normal hearing. More than a dozen mutations in the BSND gene have been identified in people with Bartter syndrome type IV. This form of the disorder causes severe or life-threatening health problems that ...
- ... of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations. It is uncertain how these mutations result in the specific features of the condition.Most SALL1 gene mutations involved in this disorder lead to the production of an abnormally short ...
- ... for several of the features common in the disorder: coloboma, heart defect, atresia choanae (also known as choanal atresia), growth retardation, genital abnormality, and ear abnormality. More than 600 mutations that can cause ...
- ... of several tissues, including bones and the inner ear. More About This Health Condition ... syndrome, a disorder of bone growth characterized by skeletal abnormalities, hearing ...
- ... of cells in the skin and the inner ear may underlie the signs and symptoms of HID.Because the D50N mutation can also cause keratitis-ichthyosis-deafness (KID) syndrome (described below), many researchers categorize KID syndrome and HID as a single disorder, which they call KID/HID. It is not ...
- ... and is present in the nose and external ears. Several variants (also called mutations) in the TRIP11 gene have been found to cause a form of achondrogenesis known as type 1A or the Houston-Harris type. This rare disorder of bone development is characterized by extremely short ...
