Human genes for mosaic variegated aneuploidy syndrome 2
Mosaic variegated aneuploidy syndrome 2 [DOID:0080142]
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.
Synonyms: mosaic variegated aneuploidy syndrome 2, DOID:0080142