Visualize Submit Comment

Metadata
ID	DOID:0060981
Name	mosaic variegated aneuploidy syndrome 4
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/
Xrefs	MIM:620153
Synonyms	MVA4 [EXACT]
Parent Relationships	is_a mosaic variegated aneuploidy syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance