Congenital insensitivity to pain with severe intellectual disability
Synonyms: Congenital absence of pain with severe intellectual disability | Congenital analgesia with severe intellectual disability | Congenital insensitivity to pain with preserved temperature sensation | Congenital insensitivity to pain with severe non-progressive cognitive delay
Congenital insensitivity to pain with severe intellectual disability is a rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by the complete absence of pain perception from birth an unresponsiveness to soft touch severe non-progressive cognitive delay and normal motor movement/behavior and strength. Affected cases retained hot and cold perception.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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