obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Term ID

DOID:0060600

Synonyms

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

Definition

A neuropathy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. It is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment.

References

Obsolete

true

Secondary ID:

Merged into

agenesis of the corpus callosum with peripheral neuropathy

Ontology

  ( DOID:0060600 )