| dbo:abstract |
Macdermot-Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms (such as microcephaly or dolichocephaly), genitalia hypoplasia and congenital-onset seizures. It's prevalence is less than 1 in a million live births. (en) |
| dbo:alias |
(en) Prominent glabella microcephaly hypogenitalism (en) |
| dbo:wikiPageID |
70777204 (xsd:integer) |
| dbo:wikiPageLength |
4318 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1088819756 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbc:Rare_genetic_syndromes dbc:Syndromes_with_microcephaly dbr:Genetic_disorder dbr:Genetic_mutation dbr:Moslem dbr:Medical_genetics dbr:Dolichocephaly dbr:Glabella dbr:Hydronephrosis dbr:Microcephaly dbr:Seizures dbr:Eyebrows |
| dbp:causes |
dbr:Genetic_mutation |
| dbp:deaths |
2 (xsd:integer) |
| dbp:diagnosis |
Physical evaluation (en) |
| dbp:frequency |
very rare, only 2 cases reported (en) |
| dbp:name |
Macdermot-Winter syndrome (en) |
| dbp:prevention |
none (en) |
| dbp:specialty |
dbr:Medical_genetics |
| dbp:synonyms |
Prominent glabella microcephaly hypogenitalism (en) |
| dbp:wikiPageUsesTemplate |
dbt:Genetic-disorder-stub dbt:Reflist dbt:Infobox_medical_condition |
| dct:subject |
dbc:Rare_genetic_syndromes dbc:Syndromes_with_microcephaly |
| rdf:type |
owl:Thing wikidata:Q12136 dbo:Disease |
| rdfs:comment |
Macdermot-Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms (such as microcephaly or dolichocephaly), genitalia hypoplasia and congenital-onset seizures. It's prevalence is less than 1 in a million live births. (en) |
| rdfs:label |
Macdermot-Winter syndrome (en) |
| owl:sameAs |
wikidata:Macdermot-Winter syndrome https://global.dbpedia.org/id/DZ82Y |
| prov:wasDerivedFrom |
wikipedia-en:Macdermot-Winter_syndrome?oldid=1088819756&ns=0 |
| foaf:isPrimaryTopicOf |
wikipedia-en:Macdermot-Winter_syndrome |
| is dbo:wikiPageWikiLink of |
dbr:List_of_diseases_(M) |
| is foaf:primaryTopic of |
wikipedia-en:Macdermot-Winter_syndrome |