Term Name: | mosaic variegated aneuploidy syndrome 2 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080142] ( DOID:0080142 ) |