mosaic variegated aneuploidy syndrome 1

A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or c

A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.

Signs and symptoms

• Microcephaly
• Small for gestational age
• Intrauterine growth retardation
• Bilateral tonic-clonic seizure
• Epicanthus
• Short stature
• Profound intellectual disability
• Short nose
• Generalized hypotonia
• Cataract