Term Name: Pan-Chung-Bellen syndrome
Synonyms: PCBS
Definition: 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.
Ontology: Human Disease [DOID:0061146]   ( DOID:0061146 )

Relationships
is a type of: autosomal dominant disease syndromic intellectual disability