Distal 17p13.1 microdeletion syndrome
Synonyms: Distal del(17)(p13.1)
Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech dysmorphic features (long midface retrognathia with overbite protruding ears) microcephaly failure to thrive wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Distal 17p13.1 microdeletion syndrome?
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