hereditary sensory and autonomic neuropathy type 6

Term ID

DOID:0070151

Synonyms

• hereditary sensory and autonomic neuropathy type VI
• HSAN6

Definition

A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. https://www.ncbi.nlm.nih.gov/pubmed/22522446

References

• ICD10CM:G60.8
• MIM:614653
• ORDO:314381

Ontology

Human Disease   ( DOID:0070151 )