Details of Disease | DrugMAP

General Information of Disease (ID: DISIJQX1)

Disease Name	Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Synonyms	BVSYS; BASEL-Vanagaite-SMIRIN-YOSEF syndrome; Basel-Vanagait-Smirin-Yosef syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISIJQX1: Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0014643 UMLS CUI C4225323 OMIM ID 616449 MedGen ID 897292 Orphanet ID 464738 SNOMED CT ID 1187644009

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
MED25	OTDBY87B	Definitive	Autosomal recessive	[1]
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References

1	Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20.