Search Ontology:
Human Disease

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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models