- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/2. (PMID:34009673)
- Abnormality of chromosome stability (HP:0003220): A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. Evidence: PCS. (PMID:34009673)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 2/2. (PMID:34009673)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:34009673)
These phenotypes are associated with the disease mosaic variegated aneuploidy syndrome 4 (OMIM:620153).