Visualize Submit Comment

Metadata
ID	DOID:0080142
Name	mosaic variegated aneuploidy syndrome 2
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. https://pubmed.ncbi.nlm.nih.gov/21552266/
Xrefs	MIM:614114
Parent Relationships	is_a mosaic variegated aneuploidy syndrome is_a autosomal recessive disease