agenesis of the corpus callosum with peripheral neuropathy
Findings
No curated finding names agenesis of the corpus callosum with peripheral neuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0000902), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- 1 of 1 reported patient
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC12A6HGNC:10914
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: agenesis of the corpus callosum with peripheral neuropathy
- Also called
- Andermann syndromeCharlevoix diseasecorpus callosum agenesis-neuronopathy syndromehereditary motor and sensory neuropathy with agenesis of the corpus callosumperipheral neuropathy associated with agenesis of the corpus callosum