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Browse result for Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
※ introduction Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between individual cases, but is generally characterised by ossification of the external ears, learning difficulties, and facial abnormalities. It was first described in 1982 in Scotland's Royal National Larbert Institution by Dr D.A.A. Primrose.
Primrose syndrome appears to occur spontaneously, regardless of family history. The cause is currently unknown and there are no known treatments.
Reference
Wiki: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Reference
Wiki: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD13112 | Q9HC78 | 26137 | ZBTB20 | Zinc finger and BTB domain-containing protein 20 | Homo sapiens |
