Term Name:	hereditary sensory and autonomic neuropathy type 9
Synonyms:	autosomal recessive spastic paraplegia 49, hereditary sensory and autonomic neuropathy type IX, HSAN9, SPG49, TECPR2-related hereditary sensory and autonomic neuropathy
Definition:	A hereditary sensory and autonomic neuropathy characterized by global developmental delay, intellectual disability, hypotonia, dysarthria, abnormal gait, hyporeflexia, and central hypoventilation or apnea that has_material_basis_in homozygous or compound heterozygous mutation in the TECPR2 gene on chromosome 14q32. Additional symptoms due to peripheral neuropathy or autonomic dysfunction are more variable.
Ontology:	Human Disease [DOID:0110801]   ( DOID:0110801 )