hereditary sensory and autonomic neuropathy type 9

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 heter

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.

Signs and symptoms

• Short stature
• Gait ataxia
• Hypotonia
• Gastroesophageal reflux
• Spastic gait
• Hypomimic face
• Dental crowding
• Round face
• Intellectual disability
• Cerebral atrophy

Also known as: HSAN9; SPG49; TECPR2-related hereditary sensory and autonomic neuropathy; autosomal recessive spastic paraplegia 49; hereditary sensory and autonomic neuropathy type IX