Phenotypes associated with the disease Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (DECIPHER:53):
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (DECIPHER:53)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: IEA. (DECIPHER:53)
- Truncal obesity (HP:0001956): Obesity located preferentially in the trunk of the body as opposed to the extremities. Evidence: IEA. (DECIPHER:53)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: IEA. (DECIPHER:53)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (DECIPHER:53)