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Metadata
ID	DOID:0070823
PURL	http://purl.obolibrary.org/obo/DOID_0070823 Copy Copied!
Name	Paul-Chao neurodevelopmental syndrome
Definition	An autosomal dominant intellectual developmental disorder characterized by global developmental delay, delayed walking, variably impaired intellectual development, and poor or absent speech that has_material_basis_in heterozygous mutation in the PPFIA3 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/38181735/
Xrefs	MIM:621122 UMLS_CUI:C6012758
SKOS	exactMatch MIM:621122 exactMatch UMLS_CUI:C6012758
Subsets	DO_rare_slim
Synonyms	NEDPACH [EXACT]
Parent Relationships	is_a autosomal dominant intellectual developmental disorder
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance