| 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 | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |