autosomal recessive intellectual developmental disorder 73

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.

Signs and symptoms

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Ventricular septal defect
• Single transverse palmar crease
• Downslanted palpebral fissures
• Decreased fetal movement
• Clinodactyly of the 5th finger
• Epicanthus
• Poor speech