Term Name: | hereditary sensory and autonomic neuropathy type 6 |
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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. |
Ontology: | Human Disease [DOID:0070151] ( DOID:0070151 ) |