Details of Disease | DrugMAP

General Information of Disease (ID: DIS4XKXR)

Disease Name	Bosch-Boonstra-Schaaf optic atrophy syndrome
Synonyms	Bosch-Boonstra-Schaaf optic atrophy syndrome; optic atrophy-intellectual disability syndrome; BBSOAS
Definition	Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DIS4XKXR: Bosch-Boonstra-Schaaf optic atrophy syndrome
Disease Identifiers	MONDO ID MONDO_0014320 UMLS CUI C3810363 OMIM ID 615722 MedGen ID 816693 Orphanet ID 401777 SNOMED CT ID 770723007

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
NR2F1	OTGWZWYL	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.