Details of Disease | DrugMAP

General Information of Disease (ID: DISJZ467)

Disease Name	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Synonyms	INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioural abnormalities; INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities; IDDFBA
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISJZ467: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Disease Identifiers	MONDO ID MONDO_0060760 UMLS CUI C4748135 OMIM ID 618089 MedGen ID 1648498

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FBXO11	TT6G10V	Strong	Genetic Variation	[1]
FBXO11	TT6G10V	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRMT9	OT6OBK3K	Limited	Autosomal recessive	[2]
FBXO11	OTGWF3Q2	Definitive	Autosomal dominant	[2]
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References

1	De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.Hum Genet. 2018 May;137(5):401-411. doi: 10.1007/s00439-018-1892-1. Epub 2018 May 23.
2	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.