" /> Temtamy syndrome - CISMeF





Preferred Label : Temtamy syndrome;

Symbol : TEMTYS;

CISMeF acronym : TEMTYS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum;

Description : Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 12 open reading frame 57 gene (C12ORF57, 615140.0001);

Prefixed ID : #218340;

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29/07/2025


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