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developmental delay, dysmorphic facies, and brain anomalies
Summary
- Synonym
-
- DEVDFB
- 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.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0060933
- Mondo Disease Ontology
- OMIM
