Details of Disease | DrugMAP

General Information of Disease (ID: DISJ2N14)

Disease Name	ZTTK syndrome
Synonyms	ZTTK multiple congenital anomalies-mental retardation syndrome; Zhu-Tokita-Takenouchi-Kim syndrome; brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome; ZTTK multiple congenital anomalies-intellectual disability syndrome; ZTTKS; TOKIMS; Tokita-Kim syndrome; ZTTK syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISJ2N14: ZTTK syndrome
Disease Identifiers	MONDO ID MONDO_0014936 UMLS CUI C4310696 OMIM ID 617140 MedGen ID 934663 Orphanet ID 500150 SNOMED CT ID 1169355000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SON	OT9VWV18	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.