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Results 1 - 10 of 12 for Intermediate phenotype
  1. Cryopyrin-associated periodic syndromes 
    ... Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies. Rheumatol Int. 2021 Jan;41(1): ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  2. Epidermolysis bullosa simplex 
    ... MOTTLED PIGMENTATION; EBS2F EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, ... bullosa simplex with PLEC mutations: new phenotypes and new mutations. Br J Dermatol. 2013 Apr; ...
    https://medlineplus.gov/.../condition/epidermolysis-bullosa-simplex - Genetics
  3. Meesmann corneal dystrophy 
    ... 3 gene in an asymptomatic family suggests genotype-phenotype correlation. Mol Vis. 2008 Sep 15;14:1713- ...
    https://medlineplus.gov/.../condition/meesmann-corneal-dystrophy - Genetics
  4. Pachyonychia congenita 
    ... ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. ...
    https://medlineplus.gov/genetics/condition/pachyonychia-congenita - Genetics
  5. Charcot-Marie-Tooth disease 
    ... forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and ... disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  6. Glutaric acidemia type I 
    ... Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to ... enzyme allows lysine, hydroxylysine and tryptophan and their intermediate breakdown products to build up to abnormal levels, ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
  7. Juvenile Paget disease 
    ... Freitas F, Vanhoenacker F, Van Hul W. An intermediate form of juvenile Paget's disease caused by ...
    https://medlineplus.gov/genetics/condition/juvenile-paget-disease - Genetics
  8. Genetic epilepsy with febrile seizures plus 
    ... Some people with GEFS+ have seizure disorders of intermediate severity that may not fit into the classical ... recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet. 2017 Mar-Jun;31(1-2): ...
    https://medlineplus.gov/...netic-epilepsy-with-febrile-seizures-plus - Genetics
  9. Schindler disease 
    ... of the disorder.Schindler disease type III is intermediate in severity between types I and II. Affected ... NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1):15- ...
    https://medlineplus.gov/genetics/condition/schindler-disease - Genetics
  10. Rabson-Mendenhall syndrome 
    ... part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity between Donohue syndrome (which is usually ... Langley SD, DiMeglio LA, Giannella-Neto D. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol ...
    https://medlineplus.gov/.../condition/rabson-mendenhall-syndrome - Genetics
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