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bn:02562564n
Noun Concept
Categories: Genetic disorders
EN
Microcephaly lymphoedema chorioretinal dysplasia  microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  Cdmmr Syndrome  chorioretinal dysplasia-microcephaly-mental retardation syndrome  Lymphedema, Microcephaly, Chorioretinopathy Syndrome
EN
Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome is a rare genetic condition associated with: Small head Puffy feet Eye problems In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia as a distinct entity. Wikipedia
Definitions
Relations
Sources
EN
Microcephaly lymphoedema chorioretinal dysplasia also known as lymphedema microcephaly chorioretinopathy syndrome is a rare genetic condition associated with: Small head Puffy feet Eye problems In 1992, Feingold and Bartoshesky described two unrelated children with microcephaly, lymphoedema and chorioretinal dysplasia as a distinct entity. Wikipedia
Syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability Wikidata
IS A
rare disease
microcephaly
syndrome
primary lymphedema
fundus dystrophy
GENETIC ASSOCIATION
KIF11
Wikipedia
EN
Microcephaly lymphoedema chorioretinal dysplasia
Wikidata
EN
Microcephaly lymphoedema chorioretinal dysplasia
Wikipedia Redirections
EN
MLCRD, MLCRD syndrome
Wikidata Alias
EN
Cdmmr Syndrome, chorioretinal dysplasia-microcephaly-mental retardation syndrome, Lymphedema, Microcephaly, Chorioretinopathy Syndrome, lymphedema, microcephaly and chorioretinopathy syndrome, lymphedema and retinal folds with ficrocephaly and microphthalmos, Lymphedema and Retinal Folds With Microcephaly and Microphthalmos, MCLMR, microcephaly, lymphedema, chorioretinal dysplasia syndrome, Microcephaly-lymphedema-chorioretinopathy syndrome, Microcephaly and Chorioretinopathy With or Without Mental Retardation, Autosomal Dominant, microcephaly lymphedema chorioretinal dysplasia, microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR, MLCRD, Mlcrd Syndrome

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