Lowry-Wood syndrome (original) (raw)
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common (but not rare) features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2
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| dbo:abstract | Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common (but not rare) features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2 (en) |
| dbo:alias | (en) LWS (en) |
| dbo:thumbnail | wiki-commons:Special:FilePath/Autorecessive.svg?width=300 |
| dbo:wikiPageID | 70783973 (xsd:integer) |
| dbo:wikiPageLength | 3938 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1088000331 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Developmental_delay dbr:Nystagmus dbr:Genetic_disorder dbr:Epiphysis dbr:Medical_genetics dbc:Genetic_diseases_and_disorders dbr:Chromosome_2 dbr:Coxa_vara dbr:RNU4ATAC dbr:Retinitis_pigmentosa dbr:Intellectual_disabilities |
| dbp:frequency | very rare, only 10 cases reported (en) |
| dbp:name | Lowry-Wood syndrome (en) |
| dbp:prevention | none (en) |
| dbp:specialty | dbr:Medical_genetics |
| dbp:synonyms | LWS (en) |
| dbp:wikiPageUsesTemplate | dbt:Reflist dbt:Infobox_medical_condition |
| dct:subject | dbc:Genetic_diseases_and_disorders |
| rdf:type | owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment | Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common (but not rare) features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2 (en) |
| rdfs:label | Lowry-Wood syndrome (en) |
| owl:sameAs | wikidata:Lowry-Wood syndrome https://global.dbpedia.org/id/CtBc4 |
| prov:wasDerivedFrom | wikipedia-en:Lowry-Wood_syndrome?oldid=1088000331&ns=0 |
| foaf:depiction | wiki-commons:Special:FilePath/Autorecessive.svg |
| foaf:isPrimaryTopicOf | wikipedia-en:Lowry-Wood_syndrome |
| is dbo:wikiPageWikiLink of | dbr:Chromosome_2 dbr:RNU4ATAC |
| is foaf:primaryTopic of | wikipedia-en:Lowry-Wood_syndrome |
