Prader-Willi-like syndrome

Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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PMID (PMCID)
23794236
FEMALE
Interstitial 6q microdeletion syndrome and epilepsy: a new patient and review of the literature.
Vignoli A, Scornavacca GF, Peron A, La Briola F, Canevini MP.
Am J Med Genet A. 2013;161A(8):2009-15.
Variable phenotypes has been reported in patients carrying this deletion, including facial dysmorphisms, intellectual disability/developmental delay, growth retardation and hypotonia, upper limb and cardiac malformations, and Prader-Willi (PWS)-like features.