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 Autosomal dominant
Individuals reported having this disease 18
Phenotype entries for this disease 17
Associated with 1 gene NR2F1
Associated tissues -
Disease features -
Remarks -


Individuals

18 entries on 1 page. Showing entries 1 - 18.
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00039400 Individual 1 / 26350515-Pat13 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - >12y 0 - - BBSOAS, CVI, ID Protruding ear (HP:0000411); Abnormality of the nares (HP:0005288); Thick nasal alae (HP:0009928); Abnormality of the thorax (HP:0000765); Long fingers (HP:0100807); Long toe (HP:0010511); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103); Abnormal timing of flash visual evoked potentials (HP:0030461); Abnormal timing of pattern onset/offset visual evoked potentials (HP:0030458); Eccentric visual fixation (HP:0025549); Intellectual disability, moderate (HP:0002342); Cerebral visual impairment (HP:0100704); Neurodevelopmental delay (HP:0012758); Visual field defect (HP:0001123); Strabismus (HP:0000486) - NHLRC2, NR2F1, PLAC1L, POF1B 6 1 Danielle Bosch
00039410 Individual 2 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - >02y 0 - - BBSOAS, CVI, ID Epicanthus (HP:0000286); Anteverted nares (HP:0000463); Wide mouth (HP:0000154); Thick vermilion border (HP:0012471); Protruding ear (HP:0000411); Uplifted earlobe (HP:0009909); Tapered finger (HP:0001182); Prominent fingertip pads (HP:0001212); Slow-growing hair (HP:0002217); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of flash visual evoked potentials (HP:0030461); Neurodevelopmental delay (HP:0012758); Cerebral visual impairment (HP:0100704) ACP6, NR2F1 ACP6, NR2F1 2 1 Danielle Bosch
00043807 Individual 3 PubMed: Bosch 2014, Journal: Bosch 2014 - F no - - >18y 0 - - BBSOAS Upslanted palpebral fissure (HP:0000582); Hypoplastic nasal bridge (HP:0005281); Retrognathia (HP:0000278); High palate (HP:0000218); Long fingers (HP:0100807); Long toe (HP:0010511); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Abnormality of eye movement (HP:0000496); Nystagmus (HP:0000639); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of pattern reversal visual evoked potentials (HP:0030460); Intellectual disability, mild (HP:0001256); Cerebral visual impairment (HP:0100704) NR2F1 NR2F1 1 1 Johan den Dunnen
00311079 P2 PubMed: Bertacchi 2020 - M ? France - - - - - BBSOAS Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Inguinal hernia (HP:0000023); Intellectual disability (HP:0001249); Delayed fine motor development (HP:0010862); Apraxia (HP:0002186); Hypermetropia (HP:0000540); Strabismus (HP:0000486); Hypoplasia of the corpus callosum (HP:0002079); Ventriculomegaly (HP:0002119); Abnormality of the cerebral ventricles (HP:0002118); Abnormal cortical gyration (HP:0002536) NR2F1 NR2F1 1 1 Benjamin Billiet
00311092 DGAP169 PubMed: Brown 2009 - F - ? (unknown) - - 0 - - 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
00311172 Case 2 PubMed: Kaiwar 2017 - F ? ? (unknown) - - 0 - - BBSOAS Caesarian section (HP:0011410); Premature rupture of membranes (HP:0001788); Maternal hypertension (HP:0008071); Hyperemesis gravidarum (HP:0012188); Feeding difficulties in infancy (HP:0008872); Nasogastric tube feeding in infancy (HP:0011470); Heart murmur (HP:0030148); Bicuspid aortic valve (HP:0001647); Aortic aneurysm (HP:0004942); Muscular hypotonia (HP:0001252); Amblyopia (HP:0000646); Anisometropia (HP:0012803); Strabismus (HP:0000486); Neurodevelopmental delay (HP:0012758); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Cupped ear (HP:0000378); Macrocephaly (HP:0000256); Broad proximal phalanges of the hand (HP:0009852) NOTCH1, NR2F1, SGSH NOTCH1, NR2F1, SGSH 3 1 Benjamin Billiet
00311174 Individual 2 PubMed: Chen 2016 - F ? ? (unknown) - - - - - BBSOAS Abnormal visual fixation (HP:0025404); Feeding difficulties in infancy (HP:0008872); Infantile spasms (HP:0012469); Hypoplasia of the corpus callosum (HP:0002079); Cerebral white matter hypoplasia (HP:0012430); Delayed ability to sit (HP:0025336); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Amblyopia (HP:0000646); Global developmental delay (HP:0001263); Cerebral visual impairment (HP:0100704) NR2F1 NR2F1 1 1 Benjamin Billiet
00311175 Individual 6 PubMed: Chen 2016 - M ? ? (unknown) - - - - - BBSOAS Caesarian section (HP:0011410); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Hypermetropia (HP:0000540); Amblyopia (HP:0000646); Delayed speech and language development (HP:0000750) NR2F1 NR2F1 1 1 Benjamin Billiet
00311176 Individual 7 PubMed: Chen 2016 - M ? ? (unknown) - - - - - BBSOAS Caesarian section (HP:0011410); Cupped ear (HP:0000378); Narrow mouth (HP:0000160); Sloping forehead (HP:0000340); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Astigmatism (HP:0000483); Autistic behavior (HP:0000729); Aggressive behavior (HP:0000718); Generalized-onset seizure (HP:0002197); EEG with central focal spikes (HP:0012014) NR2F1 NR2F1 1 1 Benjamin Billiet
00311177 Individual 13 PubMed: Chen 2016 - F ? ? (unknown) - - - - - BBSOAS Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Poor eye contact (HP:0000817); Reduced visual acuity (HP:0007663); Accommodative esotropia (HP:0020046); Hypermetropia (HP:0000540); Cerebral visual impairment (HP:0100704); Myopathic facies (HP:0002058); Muscular hypotonia (HP:0001252); Persistent head lag (HP:0032988); NR2F1 NR2F1 1 1 Benjamin Billiet
00311178 Individual 20 PubMed: Chen 2016 - F ? ? (unknown) - - - - - BBSOAS Induced vaginal delivery (HP:0030369); Delayed ability to walk (HP:0031936); Muscular hypotonia (HP:0001252); Frequent falls (HP:0002359); Clumsiness (HP:0002312); Delayed speech and language development (HP:0000750); Delayed fine motor development (HP:0010862); Impaired mastication (HP:0005216); Dysphagia (HP:0002015); Intention tremor (HP:0002080); Reduced visual acuity (HP:0007663); Myopia (HP:0000545); Macrocephaly (HP:0000256) NR2F1 NR2F1 1 1 Benjamin Billiet
00311179 Patient 12A926 PubMed: Dimassi 2016 - M ? ? (unknown) - - - - - BBSOAS Maternal diabetes (HP:0009800); Failure to thrive (HP:0001508); Muscular hypotonia (HP:0001252); Hypsarrhythmia (HP:0002521); Infantile spasms (HP:0012469); Abnormality of lateral ventricle (HP:0030047); Cognitive impairment (HP:0100543); Absent speech (HP:0001344); Autistic behavior (HP:0000729) NR2F1 NR2F1 1 1 Benjamin Billiet
00311371 ID 33 PubMed: Rech 2020 - M ? ? (unknown) - - - - - BBSOAS Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); NR2F1, ZNF469 NR2F1 1 1 Benjamin Billiet
00312024 - - - F ? France - - - - - BBSOAS Intellectual disability (HP:0001249); Amblyopia (HP:0000646) NR2F1 NR2F1 1 1 Benjamin Billiet
00312026 - - - F no France - - - - - BBSOAS Hearing impairment (HP:0000365); Herniation of intervertebral nuclei (HP:0008441) NR2F1 NR2F1 1 1 Benjamin Billiet
00314752 - PubMed: Balciuniene 2019 - ? ? ? (unknown) - - - - - BBSOAS - NR2F1 NR2F1 1 1 Benjamin Billiet
00320445 172742 - - F - Germany - - 0 - - BBSOAS Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); Abnormality of higher mental function (HP:0011446); Abnormal nervous system physiology (HP:0012638); Neurodevelopmental delay (HP:0012758); Neurodevelopmental abnormality (HP:0012759); Abnormality of the optic disc (HP:0012795) NR2F1 NR2F1 1 1 Andreas Laner
00359597 - - - M ? France - - - - - BBSOAS Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Nystagmus (HP:0000639) NR2F1 NR2F1 1 1 Benjamin Billiet
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