Pan-Chung-Bellen syndrome

A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in h

A syndromic intellectual disability characterized by developmental delay, impaired intellectual development, dysmorphic features, and congenital anomalies in cardiovascular, skeletal, gastrointestinal, renal, and urogenital systems that has_material_basis_in heterozygous mutation in the FRY-like transcription coactivator gene on chromosome 4p11.

Signs and symptoms

• Hearing impairment
• Horseshoe kidney
• Chordee
• Depression
• Borderline personality disorder
• Abnormal social development
• Intellectual disability
• Downslanted palpebral fissures
• Global developmental delay
• Pectus carinatum

Also known as: PCBS