Details of Disease | DrugMAP

General Information of Disease (ID: DISHEK6W)

Disease Name	Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Synonyms	severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome; IQSEC2-related syndromic intellectual disability
Definition	Reason: duplicate. This will be merged with MONDO:0010656 intellectual disability, X-linked 1
Disease Hierarchy	DIS6SVEE: Syndromic disease DISHEK6W: Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
Disease Identifiers	MONDO ID MONDO_0018347 MedGen ID 1660818 Orphanet ID 397933 SNOMED CT ID 774149004

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
IQSEC2	OTYFRM4Q	Supportive	X-linked	[1]
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References

1	Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15.