Details of Disease | DrugMAP

General Information of Disease (ID: DISK8N8S)

Disease Name	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Synonyms	autosomal dominant non-syndromic intellectual disability 44; mental retardation, autosomal dominant 44; intellectual disability, autosomal dominant 44; autosomal dominant intellectual disability 44; autosomal dominant mental retardation 44; MEBAS; intellectual developmental disorder, autosomal dominant 44, with microcephaly; mercer-Ba syndrome; MRD44
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DIS1I87P: Intellectual disability, autosomal dominant DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISK8N8S: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0014892 UMLS CUI C4310740 OMIM ID 617061 MedGen ID 934707 Orphanet ID 476126

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
TRIO	OT71X1AK	Strong	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.