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  1. TRPV4-Associated Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201366
    ... footnote 4 See footnote 5 AMC = arthrogryposis multiplex congenital ; CMT2C = Charcot-Marie-Tooth disease type 2C; SMA = spinal muscular atrophy; SNHL= sensorineural ...
  2. Genetic Conditions: C 
    https://medlineplus.gov/genetics/condition-c
    ... deficiency CMRD, see Chylomicron retention disease CMS, see Congenital myasthenic syndrome CMT, see Charcot-Marie-Tooth disease CN-AML, see Cytogenetically normal acute myeloid leukemia ...
  3. CDK13-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK536784
    ... Features Overlapping Distinguishing KAT6B -related disorders KAT6B AD Congenital heart defects Agenesis of corpus callosum Dental anomalies (hypoplastic teeth &/or delayed eruption of teeth) Hypotonia In KAT6B -disorders: Syndrome-specific facial features Patellar hypoplasia/agenesis Flexion ...
  4. Charcot-Marie-Tooth disease: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease
    ... HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT ...
  5. TRPV4 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/trpv4
    ... This spectrum of related conditions includes Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is characterized by ...
  6. Claw hand 
    https://medlineplus.gov/ency/article/003169.htm
    Causes may include: Congenital abnormality Genetic diseases, such as from Charcot-Marie-Tooth disease Nerve damage in the arm Scarring after a severe burn of the hand or forearm Rare infections, such as ...
  7. BSCL2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/bscl2
    ... disease MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition Congenital generalized lipodystrophy At least 25 mutations in the ...
  8. Congenital platelet function defects 
    https://medlineplus.gov/ency/article/000582.htm
    ... symptoms. Platelet transfusions, such as during surgery or dental procedures.
  9. MPZ gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mpz
    ... such as walking. This form of Charcot-Marie-Tooth disease is sometimes called Dejerine-Sottas syndrome, congenital hypomyelination, or Roussy-Levy syndrome. Researchers believe that ...
  10. SATB2-Associated Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK458647
    ... for developmental support/special education; standard treatment for dental anomalies, sleep disturbance, skeletal anomalies, seizure disorders, genitourinary anomalies, strabismus and refractive errors, and congenital heart defects. Surveillance: Evaluation of nutritional status, growth, ...
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