Disease #04062

Official abbreviation BBSOAS
Name Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
OMIM ID 615722
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene NR2F1
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Disease features -
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00039400 26350515-Pat13 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - >12y 0 - - BBSOAS, CVI, ID IQ 48, no behavioral abnormalities, normal occipital frontal head circumference, optic disc small and large excavation; MRI-brain normal - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch
00039410 - PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - >02y 0 - - BBSOAS, CVI, ID , MRI-brain smalll optic nerve and chiasm; pale optic disc, occipital frontal head circumference (55th centile); no behavioral abnormalities ACP6, NR2F1 ACP6, NR2F1 2 1 Danielle Bosch
00043807 - PubMed: Bosch 2014, Journal: Bosch 2014 - F no - - >18y 0 - - BBSOAS seep paper; IQ 55–65, no behavioral abnormalities, occipital frontal head circumference 55th centile, cerebral visual impairment, optic disc pale and large excavation, no MRI brain peformed NR2F1 NR2F1 1 1 Johan den Dunnen
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