Pan-Chung-Bellen syndrome

Term ID

DOID:0061146

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. https://pubmed.ncbi.nlm.nih.gov/38479391/

References

• MIM:621049

Ontology

Human Disease   ( DOID:0061146 )