Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help
362 results
  1. Congenital cataracts, facial dysmorphism, and neuropathy: MedlinePlus Genetics 
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy
    ... CCFDN. Learn more about the gene associated with Congenital cataracts, facial dysmorphism, and neuropathy CTDP1 Inheritance This condition is inherited in an ...
  2. Genetic Conditions: C 
    https://medlineplus.gov/genetics/condition-c
    ... with unilateral unsegmented bar, see Spondylocarpotarsal synostosis syndrome Congenital sensory neuropathy, see Hereditary sensory and autonomic neuropathy type II ...
  3. 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 ...
  4. 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_ ...
  5. CTDP1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ctdp1
    ... of proteins. Health Conditions Related to Genetic Changes Congenital cataracts, facial dysmorphism, and neuropathy Thus far, everyone with CCFDN has had the ...
  6. Hereditary sensory and autonomic neuropathy type V: MedlinePlus Genetics 
    https://medlineplus.gov/...y-sensory-and-autonomic-neuropathy-type-v
    ... 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. 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. 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 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. Hereditary sensory and autonomic neuropathy type II: MedlinePlus Genetics 
    https://medlineplus.gov/...-sensory-and-autonomic-neuropathy-type-ii
    ... of the condition. Other Names for This Condition Congenital sensory neuropathy Hereditary sensory and autonomic neuropathy type 2 HSAN ...
  10. Peripheral Nerve Disorders 
    https://medlineplus.gov/peripheralnervedisorders.html
    Peripheral nerves are nerves outside your brain and spinal cord. Learn about neuropathy and more than 100 other types of peripheral nerve disorders. ... What ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last