agenesis of the corpus callosum with peripheral neuropathy
Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \"autistic-like\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.
MONDO:0024237
inherited neurodegenerative disorder
is_a
ACCPN
related
Andermann syndrome
exact
Charlevoix disease
exact
HMSN/ACC
related
agenesis of corpus callosum with neuronopathy
related
agenesis of corpus callosum with peripheral neuropathy
related
agenesis of corpus callosum with polyneuropathy
related
agenesis of the corpus callosum with peripheral neuropathy
exact
corpus callosum agenesis neuronopathy
related
corpus callosum agenesis-neuronopathy syndrome
exact
hereditary motor and sensory neuropathy with agenesis of the corpus callosum
exact
peripheral neuropathy associated with agenesis of the corpus callosum
exact