Details of Disease | DrugMAP

General Information of Disease (ID: DISHBKJT)

Disease Name	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Synonyms	intellectual disability, autosomal dominant 21; autosomal dominant non-syndromic intellectual disability 21; mental retardation, autosomal dominant 21; intellectual disability, autosomal dominant type 21; autosomal dominant intellectual disability 21; MRD21; mental retardation, autosomal dominant type 21; autosomal dominant mental retardation 21
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DIS1I87P: Intellectual disability, autosomal dominant DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISHBKJT: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Disease Identifiers	MONDO ID MONDO_0014213 UMLS CUI C3809686 OMIM ID 615502 MedGen ID 816016 Orphanet ID 363611

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
CTCF	OT8ZB70U	Definitive	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.