Though<unk>  has a variable phenotype, a number of consistent features between most cases have been noticed. Most cases have intellectual disability, generally in the moderate to profound range. Other prevalent features include hypotonia (unusual weakness or floppiness of the skeletal muscles), significant hyperactivity, and autism-like features. Significant speech delay is common; in a sample of 35 cases with a median age of 10, over half of the participants were unable to speak, and those who did spoke their first words on average at nearly three years of age. Poor coordination and an unsteady gait are also frequent findings. A number of craniofacial anomalies are common, such as microcephaly, epicanthic folds, and unusually large ears. Other common facial features include almond-shaped eyes with long lashes, thick eyebrows, a bulbous nose, and a "sandal gap" between the toes. Height is usually normal, and physical abnormalities in general mild or absent. Genitourinary and reproductive abnormalities have been reported. A case is known of an otherwise phenotypically normal man with a ring<unk>  and azoospermia, and one symptomatic case has been reported of a girl with a malformed clitoris. Though most cases are accompanied by significant disability, reports have been made of intergenerational transmission with some mild or asymptomatic cases. A family has been reported where the<unk>  was passed down through three generations, with some members demonstrating the traditional symptoms and some not. Hyperactive behaviour is frequently reported. Bipolar disorder has been reported in adults with<unk> , and a link between hyperactivity and atypical bipolar disorder is speculated. Autistic-like traits are common in young children, although often abate by preadolescence. Relatively few ring<unk>  patients fit the full criteria for autism, and it is unclear if such an association genuinely exists or is a consequence of the correlation between autism and developmental delay in general. Neurofibromatosis type II occurs in a significant minority of cases of<unk> . The presence of multiple meningiomas is particularly common.
Ring chromosome 22
Ring chromosome 15
Ring chromosome 18
X chromosome
Y chromosome
Dup15q
Distal 18q-
Ethosome