Details of Disease | DrugMAP

General Information of Disease (ID: DISN95GO)

Disease Name	CK syndrome
Synonyms	mental retardation, X-linked, with thin body habitus and cortical malformation; intellectual disability, X-linked, with thin body habitus and cortical malformation; X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome; CK syndrome, X-linked recessive; CK syndrome
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISN95GO: CK syndrome
Disease Identifiers	MONDO ID MONDO_0010441 UMLS CUI C3151781 OMIM ID 300831 MedGen ID 463131 Orphanet ID 251383 SNOMED CT ID 773329005

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
NSDHL	OTK3EJFD	Definitive	X-linked	[1]
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References

1	Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.