PMID: 20221251Free PMC Article Prognosis Hagelstrom RT, Blagoev KB, Niedernhofer LJ, Goodwin EH, Bailey SM Proc Natl Acad Sci U S A 2010 Sep 7;107(36):15768-73. Epub 2010 Aug 23 doi: 10.1073/pnas.1006338107. [ncbi.nlm.nih.gov]

Scoliosis Abnormality of the nervous system Intellectual disability, mild Poor coordination Ventriculomegaly Abnormality of the voice High pitched voice Ear malformation Hearing impairment Growth abnormality Cachexia Failure to thrive Severe short stature Etiology [ncbi.nlm.nih.gov]