mosaic variegated aneuploidy syndrome 2 (DOID:0080142)
Alliance: disease page
Alt IDs: OMIM:614114
Definition: A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.