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Results 1 - 10 of 25 for Type A brachydactyly
  1. ROR2 gene 
    ... been identified in people with a disorder called brachydactyly type B1. This condition is characterized by abnormally short ... is from the Greek words for "short digits.") Brachydactyly type B1 has an autosomal dominant pattern of inheritance, ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  2. NOG gene 
    ... like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized by short fingers and toes, ... SYM1A MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 NOGGIN; NOG BRACHYDACTYLY, TYPE B2; BDB2 NCBI Gene ClinVar Brown DJ, Kim ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  3. 2q37 deletion syndrome 
    ... 3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  4. HDAC4 gene 
    ... 3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. Am J Med Genet ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
    https://medlineplus.gov/genetics/gene/hdac4 - Genetics
  5. Robinow syndrome 
    ... Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  6. Chromosome 2 
    ... of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  7. TRPV4 gene 
    ... HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SPONDYLOMETAPHYSEAL ... FDAB PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; COPD BRACHYOLMIA ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  8. Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDF  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Children's Craniofacial Association ... PDF
    https://ccakids.org/.../uploads/2022/01/pfeiffer-guide_2018.pdf - External Health Links
  9. COL2A1 gene 
    ... in people with platyspondylic lethal skeletal dysplasia, Torrance type. This ... flattened spinal bones (platyspondyly), and an exaggerated curvature ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  10. Platyspondylic lethal skeletal dysplasia, Torrance type 
    Platyspondylic lethal skeletal ... (platyspondyly) and an exaggerated curvature of the lower back (lordosis). Infants with ...
    https://medlineplus.gov/...c-lethal-skeletal-dysplasia-torrance-type - Genetics
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