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Results 1 - 2 of 2 for Craniometaphyseal "dysplasia," autosomal recessive
  1. Craniometaphyseal dysplasia 
    ... signs and symptoms of the disorder. Autosomal dominant craniometaphyseal dysplasia Autosomal recessive craniometaphyseal dysplasia CMD CMDD CMDJ CMDR Craniometaphyseal dysplasia, ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  2. GJA1 gene 
    ... mutations) in the GJA1 gene can cause the autosomal recessive form of craniometaphyseal dysplasia. This condition is characterized by a thickening of ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics