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Items: 2

1.

Prader-Willi-like syndrome associated with chromosome 6

MedGen UID:
401321
Concept ID:
C1867859
Disease or Syndrome
2.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present. [from GeneReviews]

MedGen UID:
46057
Concept ID:
C0032897
Congenital Abnormality

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