chromosome 17p13.1 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overb

A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is 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.

Signs and symptoms

• Global developmental delay
• Hypotonia
• Epicanthus
• Short foot
• Broad hallux
• Hydrocephalus
• Long hallux
• Proximal placement of thumb
• Intellectual disability
• Highly arched eyebrow