OBO ID: DOID:0070143 |
Term Name: | autosomal recessive cutis laxa type III | Search Ontology: | |
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Definition: | A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. https://www.ncbi.nlm.nih.gov/pubmed/18388779 | ||
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Ontology: | Human Disease ( DOID:0070143 ) |
OTHER autosomal recessive cutis laxa type III PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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