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Zttk Syndrome

Disease ID: disease_node_20153

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DbxrefGARD:13489, MIM:617140, ORDO:500150, UMLS_CUI:C4310696
SubclassofDOID_0050736, DOID_225
Data SourceDOID
SynonymsZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME, Zhu-Tokita-Takenouchi-Kim syndrome
Doid LabelZTTK syndrome
Doid DescriptionA syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20153
Doid IdDOID_0060953
LabelZttk Syndrome