ZTTK syndrome

Term ID

DOID:0060953

Synonyms

• Zhu-Tokita-Takenouchi-Kim syndrome
• ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME

Definition

A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. https://pubmed.ncbi.nlm.nih.gov/27545680/

References

• GARD:13489
• MIM:617140
• ORDO:500150
• UMLS_CUI:C4310696

Ontology

Human Disease   ( DOID:0060953 )