chromosome 15q13.3 microdeletion syndrome

A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.

Signs and symptoms

• Abnormal facial shape
• Atypical behavior
• Hypotonia
• Abnormality of the palpebral fissures
• Moderate intellectual disability
• Abnormal pinna morphology
• Mild intellectual disability
• Specific learning disability
• Clinodactyly of the 5th finger
• Severe intellectual disability

Also known as: 15q13.3 microdeletion syndrome