mosaic variegated aneuploidy syndrome 4

Term ID

DOID:0060981

Synonyms

MVA4

Definition

A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. https://pubmed.ncbi.nlm.nih.gov/34009673/

References

MIM:620153

Ontology

Human Disease ( DOID:0060981 )

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