/X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome

MONDO:0019426

Also Known As

X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis

Definition

X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterized by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive.