Pilarowski-Bjornsson syndrome

An autosomal dominant intellectual developmental disorder characterized by delayed development, impaired intellectual development, speech apraxia, and mild dysmorphic features that has_material_basis_in heterozygous mutation in the CHD1 gene on chromosome 5q.

Signs and symptoms

• Global developmental delay
• Hypotonia
• Speech apraxia
• Intellectual disability
• Downslanted palpebral fissures
• Dermal translucency
• Midface retrusion
• Periorbital fullness
• Autism
• Motor stereotypy