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hereditary sensory and autonomic neuropathy type 9 (DOID:0110801)
Alliance: disease page
Synonyms: autosomal recessive spastic paraplegia 49; hereditary sensory and autonomic neuropathy type IX; HSAN9; SPG49; TECPR2-related hereditary sensory and autonomic neuropathy
Alt IDs: OMIM:615031, ICD10CM:G11.4, ORDO:320385, UMLS_CUI:C5190860
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/31/2026
MGI 6.24 		The Jackson Laboratory