hereditary sensory and autonomic neuropathy type 9

Term ID

DOID:0110801

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. (3)

References

• ICD10CM:G11.4
• MIM:615031
• ORDO:320385
• SNOMEDCT_US_2025_09_01:783198006
• UMLS_CUI:C5190860

Ontology

Human Disease   ( DOID:0110801 )