Nivelon-Nivelon-Mabille syndrome

Definition:

Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia. It has been reported that mutations in the hedgehog acyl-transferase gene (HHAT) cause NNMS.

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