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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

MIM:621049

Synonyms

PCBS [EXACT]

Parent Relationships

is_a syndromic intellectual disability

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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