Disease association ontology term - MONDO:0010496 - X-linked intellectual disability-short stature-overweight syndrome
Term summary
- ID
- MONDO:0010496
- Name
- X-linked intellectual disability-short stature-overweight syndrome
- Ontology or CV name
- Disease association
- Definition
- X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.
