Mosaic variegated aneuploidy syndrome 2

Definition

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.

Also known as CEP57 mosaic variegated aneuploidy syndrome, mosaic variegated aneuploidy syndrome 2, mosaic variegated aneuploidy syndrome caused by mutation in CEP57, Mosaic variegated aneuploidy syndrome type 2 — per MONDO

Also identified as

• DOID 0080142 per MONDO
• NCIT C168989 per MONDO
• OMIM 614114 per MONDO
• UMLS C3279843 per MONDO