Disease #04062 (BBSOAS (Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)), OMIM:615722)

Official abbreviation BBSOAS
Name Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
OMIM ID 615722
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene NR2F1
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
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; moderate intellectual disability (HP:0002342), 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 global developmental delay (HP:0001263), 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
00311092 DGAP169 PubMed: Brown 2010 - F - ? (unknown) - - - - - BBSOAS Caesarian section (HP:0011410); Poor suck (HP:0002033); Dysphagia (HP:0002015); Abnormality of the scalp hair (HP:0100037); Facial asymmetry (HP:0000324); Upslanted palpebral fissure (HP:0000582); Anteverted nares (HP:0000463); Broad nasal tip (HP:0000455); Micrognathia (HP:0000347); Abnormality of the pinna (HP:0000377); Muscular hypotonia of the trunk (HP:0008936); Reduced tendon reflexes (HP:0001315); Profound sensorineural hearing impairment (HP:0011476); Abnormality of the vestibulocochlear nerve (HP:0009591); Cochlear malformation (HP:0008554); Abnormality of the middle ear ossicles (HP:0004452); Abnormality of the vestibular window (HP:0040100); Abnormality of the seventh cranial nerve (HP:0010827); Growth delay (HP:0001510); Apneic episodes in infancy (HP:0005949); Strabismus (HP:0000486); Temporal hypotrichosis (HP:0004524); Delayed gross motor development (HP:0002194); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); NR2F1 GALNT10, NR2F1 3 1 Benjamin Billiet
00320445 172742 - - F - Germany - - 0 - - BBSOAS (+) Optic atrophy,(+) Delayed speech and language development,(+) Intellectual disability,(+) Seizure,(+) Abnormality of higher mental function,(+) Abnormal nervous system physiology,(+) Neurodevelopmental delay,(+) Neurodevelopmental abnormality,(+) Abnormality of the optic disc NR2F1 NR2F1 1 1 Andreas Laner
Legend   How to query  

  Powered by LOVD v.3.0 Build 26
LOVD software ©2004-2021 Leiden University Medical Center 		There are currently no updates.