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'''Antley-Bixler Syndrome (ABS)''' is know as the more severe version of Cytochrome PORD. The symptoms are more prominent and dramatic in nature, and are often more obvious than CPORD. |
'''Antley-Bixler Syndrome (ABS)''' is know as the more severe version of Cytochrome PORD. The symptoms are more prominent and dramatic in nature, and are often more obvious than CPORD. |
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Those with this variation may or may not experience the symptoms of CPORD, however they do have their own exclusive symptoms that are listed below. This variation can effect both CTF and CTM |
Those with this variation may or may not experience the symptoms of CPORD, however they do have their own exclusive symptoms that are listed below. This variation can effect both CTF and CTM individuals, just as CPORD can. |
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Symptoms include disordered steroidogenesis, skeletal abnormalities, bowed thigh bones, a flattened mid-face, a prominent forehead, low set ears, unusually long fingers, locked elbows, intellectual disabilities, and slowed development are prominent. They also tend to either have ambiguous genitals or to be on the [[agenital]] spectrum, and are infertile. |
Symptoms include disordered steroidogenesis, skeletal abnormalities, bowed thigh bones, a flattened mid-face, a prominent forehead, low set ears, unusually long fingers, locked elbows, intellectual disabilities, and slowed development are prominent. They also tend to either have ambiguous genitals or to be on the [[agenital]] spectrum, and are infertile. |
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