Details of Disease | DrugMAP

General Information of Disease (ID: DISF9JDZ)

Disease Name	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Disease Hierarchy	DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISF9JDZ: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Disease Identifiers	MONDO ID MONDO_0018443 UMLS CUI C4751506 MedGen ID 1650412 Orphanet ID 404451 SNOMED CT ID 774070008

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
FBLN1	OT5MHHOP	Supportive	Autosomal recessive	[1]
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References

1	Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues. Eur J Hum Genet. 2014 May;22(5):640-3. doi: 10.1038/ejhg.2013.210. Epub 2013 Oct 2.