temtamy syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Dysmorphism, corpus callosum agenesis and colobomas
related
TEMTYS
related
Temtamy-Shalash syndrome
exact
craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
related
craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
exact
mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum
related
temtamy syndrome
exact