Schaaf–Yang syndrome (SYS) is a rare genetic disorder that is caused by a heterozygous mutation in a paternal-expressed gene MAGEL2. Main signs of this disorder are: intellectual disability/developmental delay, autism spectrum disorder, hypogonadism, hypotonia in infancy with feeding problems, and distal arthrogryposis.
Schaaf–Yang syndrome (SYS) is a rare genetic disorder that is caused by a heterozygous mutation in a paternal-expressed gene MAGEL2. Main signs of this disorder are: intellectual disability/developmental delay, autism spectrum disorder, hypogonadism, hypotonia in infancy with feeding problems, and distal arthrogryposis.
Source: Wikipedia "Schaaf–Yang syndrome" · CC BY-SA 4.0
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