Term Name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
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 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder