| 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 | |
| Synonyms |
MVA4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |