Details of Disease | DrugMAP

General Information of Disease (ID: DISI930V)

Disease Name	Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Synonyms	BRPS; BAINBRIDGE-ROPERS syndrome; severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome; ASXL3-Related Disorder; Bainbridge-Roppers syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISI930V: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Disease Identifiers	MONDO ID MONDO_0014205 MESH ID C000726367 UMLS CUI C4750837 OMIM ID 615485 MedGen ID 1656239 Orphanet ID 352577 SNOMED CT ID 773400009

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
ASXL3	OTNDJWEZ	Definitive	Autosomal dominant	[1]
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References

1	De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013.