Stocco dos Santos syndrome (original) (raw)

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dbo:abstract Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present from birth. It is characterized by heart, skeletal, muscular abnormalities with accompanying intellectual disabilities. (en)
dbo:alias (en) SDSS, X-linked intellectual disability Stocco dos Santos type (en)
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dbo:wikiPageWikiLink dbr:Anophthalmia dbr:Genetic_disorder dbr:Aniridia dbr:Tricuspid_valve_prolapse dbr:Medical_genetics dbr:Dolichocephaly dbc:Genetic_diseases_and_disorders dbr:Glucose-6-phosphate_dehydrogenase dbc:Intellectual_disability dbr:Birth_defect dbr:Intellectual_disability dbr:Camptodactyly dbr:Talipes_equinovarus dbr:Buffalmos dbr:Muscular_hypoplasia
dbp:frequency very rare (en)
dbp:name Stocco dos Santos syndrome (en)
dbp:specialty dbr:Medical_genetics
dbp:symptoms Ocular, muscular and skeletal differences (en)
dbp:synonyms SDSS, X-linked intellectual disability Stocco dos Santos type (en)
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dct:subject dbc:Genetic_diseases_and_disorders dbc:Intellectual_disability
rdf:type owl:Thing wikidata:Q12136 dbo:Disease
rdfs:comment Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present from birth. It is characterized by heart, skeletal, muscular abnormalities with accompanying intellectual disabilities. (en)
rdfs:label Stocco dos Santos syndrome (en)
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