Term Name: | neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0070469] ( DOID:0070469 ) |