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Metadata
ID	DOID:0060933
Name	developmental delay, dysmorphic facies, and brain anomalies
Definition	An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/34112922/, https://pubmed.ncbi.nlm.nih.gov/37134193/, https://pubmed.ncbi.nlm.nih.gov/37962958/
Xrefs	MIM:620535
Synonyms	DEVDFB [EXACT]
Parent Relationships	is_a autosomal dominant intellectual developmental disorder