mosaic variegated aneuploidy syndrome 2

Term ID

DOID:0080142

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. https://pubmed.ncbi.nlm.nih.gov/21552266/

References

• OMIM:614114

Ontology

Human Disease   ( DOID:0080142 )