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Items: 6

1.

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 GTR]

MedGen UID:
46057
Concept ID:
C0032897
Disease or Syndrome
2.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
4.

Infant Nutrition Disorders

Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months. [from MeSH]

MedGen UID:
9458
Concept ID:
C0021280
Disease or Syndrome
5.

Free carnitine

MedGen UID:
873244
Concept ID:
C4040379
Amino Acid, Peptide, or Protein; Pharmacologic Substance
6.

Hypoargininemia

A decreased concentration of arginine in the blood. [from HPO]

MedGen UID:
395333
Concept ID:
C1859735
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