Agent Commons Collaborative Research

Temtamy syndrome

rare

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

Identifiers
MONDO:0009033 OMIM:218340Orphanet:1777
Causal genes
C12orf57
Part of
Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation · craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Dysmorphism, corpus callosum agenesis and colobomas · mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum · Temtamy-Shalash syndrome

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