Results 1 -
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37
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Short ear
- ... eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and ...
- ... cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. These mutations alter the CDT1 protein, typically by ...
- ... cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. These mutations alter the ORC4 protein, typically by ...
- ... cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. These mutations alter the ORC1 protein, typically by ...
- ... cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. One mutation changes a single protein building block ( ...
- ... causes Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. This mutation, which is a rare cause of ...
- ... the digit. Other signs and symptoms include abnormally short middle fingers, webbed toes, and hearing loss that is due to fusion of the bones in the ears (stapes fixation).Multiple synostoses syndrome 1 is characterized ...
- ... the FGF3 protein or lead to an abnormally short protein. The altered protein likely has reduced or absent function, making it unable to stimulate signaling within cells. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features ...
- ... are made in different cell types, including a short version in the retina, which is the light-sensitive layer in the back of the eye, and a longer version in the inner ear. Cadherin 23 interacts with other proteins in the ...
- ... OSMED lead to the production of an abnormally short version of the pro-alpha2(XI) ... Health Condition MedlinePlus Genetics provides ...