Ogden syndrome

Term ID

DOID:0050781

Synonyms

• N-alpha-acetyltransferase
• N-terminal acetyltransferase deficiency
• OGDNS
• X-linked Malformation and Infantile Lethality Syndrome

Definition

A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (2)

References

• OMIM:300855
• ORDO:276432

Ontology

Human Disease   ( DOID:0050781 )