developmental delay, dysmorphic facies, and brain anomalies

Term ID

DOID:0060933

Synonyms

• 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. (3)

References

• OMIM:620535

Ontology

Human Disease   ( DOID:0060933 )