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  1. ... CCFDN. Learn more about the gene associated with Congenital cataracts, facial dysmorphism, and neuropathy CTDP1 Inheritance This condition is inherited in an ...
  2. ... with unilateral unsegmented bar, see Spondylocarpotarsal synostosis syndrome Congenital sensory neuropathy, see Hereditary sensory and autonomic neuropathy type II ...
  3. ... related-gene></related-gene-list><synonym-list ><synonym >Congenital sensory neuropathy</synonym><synonym >Hereditary sensory and autonomic neuropathy type ...
  4. ... other_name >Morvan disease</other_name><other_name >congenital sensory neuropathy</other_name><other_name >hereditary sensory and autonomic ... congenital insensitivity to pain</other_name><other_name >congenital sensory neuropathy with selective loss of small myelinated fibers</other_ ...
  5. ... of proteins. Health Conditions Related to Genetic Changes Congenital cataracts, facial dysmorphism, and neuropathy Thus far, everyone with CCFDN has had the ...
  6. ... Names for This Condition Congenital insensitivity to pain Congenital sensory neuropathy with selective loss of small myelinated fibers Hereditary ... Information & Resources Genetic Testing Information Genetic Testing Registry: ... neuropathy with selective loss of small myelinated fibers Genetic ...
  7. ... SOX10 PCWH syndrome (OMIM 609136 ) AD Hypomyelination Peripheral congenital hypomyelinating neuropathy; Waardenburg-Hirschsprung syndrome TMEM106B Hypomyelinating leukodystrophy 16 (OMIM ...
  8. ... related deafness should be suspected in individuals with: Congenital auditory neuropathy without a history of causative environmental factors (e. ... 28 genes (including OTOF ) have been implicated in congenital autosomal ... the following: DFNB59, autosomal recessive auditory neuropathy ...
  9. ... WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY MOTOR AND ...
  10. ... of the condition. Other Names for This Condition Congenital sensory neuropathy Hereditary sensory and autonomic neuropathy type 2 HSAN ...
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