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Results 1 - 6 of 6 for capo
  1. ATP1A3 gene 
    ... hearing loss. This specific presentation is known as CAPOS syndrome (the abbreviation comes from the first letter ... Affected individuals usually develop signs and symptoms of CAPOS syndrome in infancy or early childhood during or ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  2. DDX11 gene 
    ... H-BOX HELICASE 11; DDX11 NCBI Gene ClinVar Capo-Chichi JM, Bharti SK, Sommers JA, Yammine T, ...
    https://medlineplus.gov/genetics/gene/ddx11 - Genetics
  3. CLPB gene 
    ... PubMed CASEINOLYTIC PEPTIDASE B; CLPB NCBI Gene ClinVar Capo-Chichi JM, Boissel S, Brustein E, Pickles S, ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  4. CLPB deficiency 
    ... NORD) 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIB; MGCA7B PubMed Capo-Chichi JM, Boissel S, Brustein E, Pickles S, ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  5. Warsaw breakage syndrome 
    ... Rare Disorders (NORD) WARSAW BREAKAGE SYNDROME; WABS PubMed Capo-Chichi JM, Bharti SK, Sommers JA, Yammine T, ...
    https://medlineplus.gov/genetics/condition/warsaw-breakage-syndrome - Genetics
  6. Asparagine synthetase deficiency 
    ... 2015 Aug 14. Citation on PubMed Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics