Ebstein-Bezieau neurodevelopmental syndrome

A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3

A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13.

Signs and symptoms

• Delayed speech and language development
• Facial shape deformation
• Intellectual disability
• Motor delay
• Atypical behavior
• Postnatal growth retardation
• Feeding difficulties
• Microcephaly
• Decreased body weight
• Short stature