SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/726709001
http://purl.bioontology.org/ontology/SNOMEDCT/726709001
Preferred Name

Intellectual disability, cataract, calcified pinna, myopathy syndrome

Definitions
A rare genetic intellectual disability syndrome with characteristics of macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair and tall stature. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include hypothyroidism, cerebral calcification, ataxia and peripheral neuropathy. There is evidence this disease is caused by heterozygous mutation in the ZBTB20 gene on chromosome 3q13.
Synonyms
Primrose syndrome
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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