SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/732251003
http://purl.bioontology.org/ontology/SNOMEDCT/732251003
Preferred Name

Cortical blindness, intellectual disability, polydactyly syndrome

Definitions
Syndrome with characteristics of cortical blindness, intellectual deficit and polydactyly. This combination was found in three children of first-cousin parents. The facial features included prominent forehead, short nose, long philtrum and microretrognathia. Two of the three children died of acute gastroenteritis. Growth and psychomotor development were severely delayed.
Synonyms
Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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