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- Microcephaly_lymphoedema_chorioretinal_dysplasia abstract "Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Small head (Microcephaly)Puffy feet (Lymphoedema)Eye problems (Chorio-retinal dysplasia i.e. changes in the retina)In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as a distinct entity. Since then there have been further reports of children with these three features (Angle et al. 1994, Fryns et al. 1995, Limwongse et al. 1999, Casteels et al. 2001)Children have also been seen with two of the above features:Microcephaly and lymphoedemaMicrocephaly and chorioretinal dysplasia with or without intellectual disabilityThe former (microcephaly and lymphoedema) has been described as an autosomal dominant (MIM 156590) or X-linked trait, while the latter (microcephaly and chorioretinal dysplasia) has been described as autosomal dominant, autosomal recessive (MIM 251270 or Mirhosseini-Holmes-Walton syndrome) or X-linked trait.The distinct facial feature include upslanting palpebral fissures, a broad nose with rounded tip, long philtrum with a thin upper lip, pointed chin and prominent ears (Vasudevan 2005)".
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageID "32070752".
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageLength "2679".
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageOutDegree "11".
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageRevisionID "638079905".
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Category:Genetic_disorders.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Dominance_(genetics).
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Genetic_disorder.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Intellectual_disability.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Lymphedema.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Microcephaly.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Mirhosseini–Holmes–Walton_syndrome.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Philtrum.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Retina.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLink Sex_linkage.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wikiPageWikiLinkText "Microcephaly lymphoedema chorioretinal dysplasia".
- Microcephaly_lymphoedema_chorioretinal_dysplasia subject Category:Genetic_disorders.
- Microcephaly_lymphoedema_chorioretinal_dysplasia hypernym Condition.
- Microcephaly_lymphoedema_chorioretinal_dysplasia type Disease.
- Microcephaly_lymphoedema_chorioretinal_dysplasia type Disorder.
- Microcephaly_lymphoedema_chorioretinal_dysplasia comment "Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Small head (Microcephaly)Puffy feet (Lymphoedema)Eye problems (Chorio-retinal dysplasia i.e. changes in the retina)In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia (MIM 152950) as a distinct entity. Since then there have been further reports of children with these three features (Angle et al. 1994, Fryns et al.".
- Microcephaly_lymphoedema_chorioretinal_dysplasia label "Microcephaly lymphoedema chorioretinal dysplasia".
- Microcephaly_lymphoedema_chorioretinal_dysplasia sameAs Q6839330.
- Microcephaly_lymphoedema_chorioretinal_dysplasia sameAs m.0gx0hgr.
- Microcephaly_lymphoedema_chorioretinal_dysplasia sameAs Q6839330.
- Microcephaly_lymphoedema_chorioretinal_dysplasia wasDerivedFrom Microcephaly_lymphoedema_chorioretinal_dysplasia?oldid=638079905.
- Microcephaly_lymphoedema_chorioretinal_dysplasia isPrimaryTopicOf Microcephaly_lymphoedema_chorioretinal_dysplasia.