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DOID:0070143 - autosomal recessive cutis laxa type III
Disease Ontology 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.
Synonyms: De Barsy syndrome, cutis laxa-corneal clouding-intellectual disability syndrome,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cutis laxa (is_a)