agenesis of the corpus callosum with peripheral neuropathy

Term ID

DOID:0090003

Synonyms

• Andermann syndrome
• Charlevoix disease
• corpus callosum agenesis-neuronopathy syndrome

Definition

A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. (2)

References

• ICD10CM:G60.0
• MIM:218000
• ORDO:1496

Ontology

Human Disease   ( DOID:0090003 )