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ENTemtamy Syndrome (TEMTYS)
Alias:
Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome
Temtamy-Shalash Syndrome
Temtys
Mental Retardation with or Without Craniofacial Dysmorphism, Ocular Coloboma, or Abnormal Corpus Callosum
Craniofacial Dysmorphism with Ocular Coloboma Absent Corpus Callosum and Aortic Dilatation
Dysmorphism, Corpus Callosum Agenesis and Colobomas
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Temtamy Syndrome, also known as craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, is related to coloboma of macula and corpus callosum, agenesis of. An important gene associated with Temtamy Syndrome is C12orf57 (Chromosome 12 Open Reading Frame 57). Affiliated tissues include thalamus and brain, and related phenotypes are intellectual disability and global developmental delay
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