Bosch-Boonstra-Schaaf optic atrophy syndrome
Findings
No curated finding names Bosch-Boonstra-Schaaf optic atrophy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014320), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
51 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- 6 of 6 reported patients
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- 19 of 20 reported patients
- Frequent (30% to 79% of cases)
- Cerebral visual impairmentHPOHP:0100704
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
- Optic disc pallorHPOHP:0000543
Show the remaining 39
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Abnormal helix morphologyHPOHP:0011039
- Occasional (5% to 29% of cases)
- Absent speechHPOHP:0001344
- Occasional (5% to 29% of cases)
- AmblyopiaHPOHP:0000646
- Occasional (5% to 29% of cases)
- Anteverted naresHPOHP:0000463
- 1 of 6 reported patients
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NR2F1HGNC:7975
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Bosch-Boonstra-Schaaf optic atrophy syndrome
- Also called
- BBSOASoptic atrophy-intellectual disability syndrome