Schaaf-Yang syndrome, abbreviated SYS, is a rare genetic disorder caused by a heterozygous mutation in MAGEL2, a gene that is expressed from the copy inherited from the father. The main signs are intellectual disability or developmental delay, autism spectrum disorder, hypogonadism, low muscle tone in infancy with feeding problems, and distal arthrogryposis. Typical facial features include a short nose, dense eyebrows and a protruding jaw.
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1. Schaaf-Yang syndrome (Wikipedia)
Lead paragraph 1
intellectual disability/developmental delay, autism spectrum disorder, hypogonadism, hypotonia in infancy
Lead paragraph 1 [causative-agent-category]
is a rare genetic disorder that is caused by a heterozygous mutation in a paternal-expressed gene MAGEL2
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