Term Name: mosaic variegated aneuploidy syndrome 4
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.
Ontology: Human Disease [DOID:0060981]   ( DOID:0060981 )

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