neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

Term ID

DOID:0070469

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. (2)

References

• OMIM:619480

Ontology

Human Disease   ( DOID:0070469 )