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Results 1 - 10 of 16 for Brachydactyly syndrome type E
  1. 2q37 deletion syndrome 
    ... SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum ...
    https://medlineplus.gov/genetics/condition/2q37-deletion-syndrome - Genetics
  2. Chromosome 2 
    ... SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum ...
    https://medlineplus.gov/genetics/chromosome/2 - Genetics
  3. HDAC4 gene 
    ... SH. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum ...
    https://medlineplus.gov/genetics/gene/hdac4 - Genetics
  4. ROR2 gene 
    ... Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat ...
    https://medlineplus.gov/genetics/gene/ror2 - Genetics
  5. Robinow syndrome 
    ... Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, 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. NOG gene 
    ... facial features like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized by short fingers and toes, ... AND TOES SYMPHALANGISM, PROXIMAL, 1A; 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
  7. Oral-facial-digital syndrome 
    ... toes (syndactyly), digits that are shorter than usual (brachydactyly), or ... one or a few types of oral-facial digital syndrome. These features help ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  8. Pfeiffer syndrome 
    ... the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  9. MIR17HG gene 
    ... the amount of the MIR17HG gene cause Feingold syndrome type 2. This developmental disorder is characterized by abnormalities ... problems with growth and development characteristic of Feingold syndrome type 2, it remains unclear exactly how a shortage ...
    https://medlineplus.gov/genetics/gene/mir17hg - Genetics
  10. COL2A1 gene 
    ... collagen underlies the signs and symptoms of Stickler syndrome type I. More About This Health Condition Variants in ... KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E. Identification and characterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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