Details of Disease | DrugMAP

General Information of Disease (ID: DISTBWL2)

Disease Name	Intellectual disability, X-linked 104
Synonyms	mental retardation, X-linked 104; intellectual disability, X-linked 104; intellectual disability, X-linked type 104; FRMPD4 non-syndromic X-linked intellectual disability; intellectual developmental disorder, X-linked 104; mental retardation, X-linked type 104; MRX104; non-syndromic X-linked intellectual disability caused by mutation in FRMPD4
Definition	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene.
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DISTBWL2: Intellectual disability, X-linked 104
Disease Identifiers	MONDO ID MONDO_0010509 UMLS CUI C4310817 OMIM ID 300983 MedGen ID 934784

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
FRMPD4	OT60SNXQ	Strong	X-linked	[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.