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  1. CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK25565
    ... GeneReviews Advanced Search Help < Prev Next > CTDP1 -Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy Synonym: CTDP1 -CCFDN Luba Kalaydjieva , MD, PhD and ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... related-gene></related-gene-list><synonym-list ><synonym >Congenital sensory neuropathy</synonym><synonym >Hereditary sensory and autonomic neuropathy type ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... neuropathy type II</title><other_names ><other_name >Congenital sensory neuropathy</other_name><other_name >HSAN type II</other_ ... Congenital insensitivity to pain</other_name><other_name >Congenital sensory neuropathy with selective loss of small myelinated fibers</other_ ...
  4. OTOF-Related Deafness - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1251
    ... related deafness should be suspected in individuals with: Congenital auditory neuropathy/synaptopathy without a history of causative environmental factors ( ...
  5. Hereditary Sensory and Autonomic Neuropathy Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK49247
    ... been reported as the following: Morvan's disease Congenital sensory neuropathy Neurogenic acroosteolysis Hereditary sensory radicular neuropathy Dyck originally ...
  6. SPTBN4 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK559435
    ... mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Hum Genet. 2017; 136 :903– ... Rasband MN. βIV spectrinopathies cause profound intellectual disability, congenital hypotonia, and motor axonal neuropathy. Am J Hum Genet. 2018; 102 :1158–68. [ ...
  7. PLP1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1182
    ... SOX10 PCWH syndrome (OMIM 609136 ) AD Hypomyelination Peripheral congenital hypomyelinating neuropathy; Waardenburg-Hirschsprung syndrome TMEM106B Hypomyelinating leukodystrophy 16 (OMIM ...
  8. NTRK1 Congenital Insensitivity to Pain with Anhidrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1769
    ... describe NTRK1- CIPA include: Familial dysautonomia type II Congenital sensory neuropathy with anhidrosis Prevalence While NTRK1- CIPA (or HSAN ... I. Oral manifestations of hereditary sensory and autonomic neuropathy type IV. Congenital insensitivity to pain with anhidrosis. Oral Surg Oral ...
  9. Familial Dysautonomia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1180
    ... article : PMC2098750 ] [ PubMed : 17915006 ] Axelrod FB, Pearson J. Congenital sensory neuropathies: diagnostic distinction from familial dysautonomia. American Journal of ...
  10. TUBB4A-Related Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK395611
    ... Crowe C, Sawady J, Lupski JR, Agamanolis DP. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked ...
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