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

MIM:614114

Ontology

Human Disease ( DOID:0080142 )

Relationships

is a type of: autosomal recessive disease mosaic variegated aneuploidy syndrome

autosomal recessive disease mosaic variegated aneuploidy syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models