| hereditaire sensorische en autonome neuropathie met ernstige verstandelijke beperking (aandoening) |
| hereditaire sensorische en autonome neuropathie met ernstige verstandelijke beperking |
| HSAN met ernstige mentale retardatie
congenitaal pijnongevoeligheidssyndroom met ernstige verstandelijke handicap
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| Congenital insensitivity to pain with severe intellectual disability |
| Congenital insensitivity to pain with severe non-progressive cognitive delay
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital absence of pain with severe intellectual disability
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| 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 retain hot and cold perception. |
