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J Med Genet 39:594-596 doi:10.1136/jmg.39.8.594
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Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Table 1

Clinical features observed in Prader-Willi syndrome and five cases of interstitial deletion of chromosome 6q associated with Prader-Willi-like phenotype

Prader-Willi syndrome Patients with interstitial 6q deletion and a Prader-Willi-like phenotype
Hypotonia + 4/4
Feeding problems in infancy + 3/3
Obesity + 5/5
Facial dysmorphism Mild Moderate
Hypogonadism + 4/5
Developmental delay Mild Severe
Hyperphagia + 2/5
Short extremities + 5/5
Cardiac defects - 2/5
CNS abnormalities - 3/5

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