Source:http://linkedlifedata.com/resource/lhgdn/association:17275
Predicate | Object |
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lhgdn:found_in | |
lhgdn:geneRifSource |
An 806delG mutation of MECP2 was found in a boy with severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs.
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lhgdn:mesh_code |
D008831
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lhgdn:associationIdType | |
lhgdn:umls_code |