Metadata | |
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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/ |
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Synonyms |
PCBS [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |