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loading...| Preferred Name | Fragile X Syndrome | |
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| Definitions |
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. |
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| ID |
http://cbmi.med.harvard.edu/asdphenotype#Class_308 |
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| definition |
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, seizures, language delay, and enlargement of the ears, head, and testes. |
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| label |
Fragile X Syndrome |
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| prefixIRI |
asd:Class_308 |
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| prefLabel |
Fragile X Syndrome |
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