List of variants reported as likely pathogenic for Pectus excavatum; High palate; Absent speech; Partial agenesis of the corpus callosum; Microcephaly; Inability to walk; Shortening of all distal phalanges of the fingers; Lower limb hypertonia; Hypoplasia of the frontal lobes; Hypoplasia of the premaxilla; Intellectual disability, severe; Upper limb hypertonia by
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.