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

OMIM:614114

Parent Relationships

is_a mosaic variegated aneuploidy syndrome

is_a autosomal recessive disease

Add an item to the term tracker