Rafiq syndrome

An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in

An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34.

Signs and symptoms

• Moderate intellectual disability
• Motor delay
• Intellectual disability
• Global developmental delay
• Macrotia
• Downslanted palpebral fissures
• Hypotonia
• Truncal obesity
• Underdeveloped nasolabial fold
• Cutis laxa

Also known as: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15