ZFIN Human Disease: mosaic variegated aneuploidy syndrome 2

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:	OMIM: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 mosaic variegated aneuploidy syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CEP57	cep57	Mosaic variegated aneuploidy syndrome 2	614114

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None