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  • Síndrome caracterizado por déficit intelectual leve, catarata congénita, sordera neurosensorial progresiva y ataxia. Se describió en dos hermanas. La herencia probablemente es autosómica recesiva.
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Metadata

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<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C4304964_SCTSPA>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C4304964_SCTSPA>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
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