| Metadata | |
|---|---|
| ID | DOID:0061146 |
| Name | Pan-Chung-Bellen syndrome |
| 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/ |
| Xrefs | |
| Synonyms |
PCBS [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |