Details of Disease | DrugMAP

General Information of Disease (ID: DISQ95E8)

Disease Name	Intellectual developmental disorder with dysmorphic facies and ptosis
Synonyms	IDDDFP; intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP; intellectual developmental disorder with dysmorphic facies and ptosis
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISQ95E8: Intellectual developmental disorder with dysmorphic facies and ptosis
Disease Identifiers	MONDO ID MONDO_0015022 UMLS CUI C4310617 OMIM ID 617333 MedGen ID 934584

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
BRPF1	TTT46BN	moderate	Genetic Variation	[1]
BRPF1	TTT46BN	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRPF1	OTPC9GXB	Strong	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.Eur J Med Genet. 2019 Aug;62(8):103691. doi: 10.1016/j.ejmg.2019.103691. Epub 2019 Jun 6.
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.