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neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
Summary
- Synonym
-
- NEDDFAC
- Definition
- An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070469
- Mondo Disease Ontology
- OMIM
