OBO ID: DOID:0080142
Term Name: mosaic variegated aneuploidy syndrome 2 Search Ontology:
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:
Ontology: Human Disease   (DOID:0080142)
OTHER mosaic variegated aneuploidy syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CEP57 Mosaic variegated aneuploidy syndrome 2 614114
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None