Craniometaphyseal Dysplasia, Autosomal Recessive (CMDR)

Craniometaphyseal Dysplasia, Autosomal Recessive, also known as autosomal recessive craniometaphyseal dysplasia, is related to craniometaphyseal dysplasia, autosomal dominant and vaccinia. An important gene associated with Craniometaphyseal Dysplasia, Autosomal Recessive is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Vesicle-mediated transport and Gap junction trafficking. Affiliated tissues include bone and heart, and related phenotypes are macrocephaly and intellectual disability