Table 1.

Symptoms referred to in OMIM Clinical Synopsis section for Prader–Willi syndrome (partial)

Inheritance:

Isolated cases

Growth:

Height

Mean adult male height, 155 cm

Mean adult female height, 147 cm

Steady childhood growth

Weight

Onset of obesity from 6 months to 6 years

Central obesity

Respiratory:

Hypoventilation

Hypoxia

Skeletal:

Osteoporosis

Osteopenia

Endocrine features:

Hyperinsulinemia

Growth hormone deficiency

Hypogonadotropic hypogonadism

Miscellaneous:

Food related behavioral problems include excessive appetite and obsession with eating

Temperature instability

High pain threshold

Molecular basis:

Microdeletion of 15q11 in 70% of patients confirmed by fluorescent in situ hybridization

Remainder of cases secondary to maternal disomy

Rare cases secondary to chromosome translocation

Clinical features of a disorder are listed in the Clinical Synopsis (CS) section of the OMIM database. The CS section mainly describes morphologies and events in clinical and diagnostic fields. Each feature is itemized, but a controlled vocabulary is not used.