Term Name: | Pan-Chung-Bellen syndrome |
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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 ) |