All individuals with variants in gene NR2F1

28 entries on 1 page. Showing entries 1 - 28.
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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; moderate intellectual disability (HP:0002342), no behavioral abnormalities, normal occipital frontal head circumference, optic disc small and large excavation; MRI-brain normal 1 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 1 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 1 1 Johan den Dunnen
00043808 - PubMed: Bosch 2014, Journal: Bosch 2014 - F no United States - >35y 0 - - ? see paper; optic atrophy, intellectual disability (IQ 52), autism spectrum disorder with marked obsessive-compulsive disorder, occipital frontal head circumference 13th centile, no cerebral visual impairment, pale optic disc, MRI-brain normal 1 1 Johan den Dunnen
00043809 - PubMed: Bosch 2014, Journal: Bosch 2014 father, unaffecter heterozygous carrier sister and son M no - - >68y 0 - - OPA optic atrophy 1 1 Johan den Dunnen
00043810 - PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >24y 0 - - CVI see paper; IQ 61–74, no behavioral abnormalities, occipital frontal head circumference 99th centile, partial pale optic disc, MRI-brain not performed 1 1 Johan den Dunnen
00043811 - PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >04y 0 - - CVI see paper; developmental delay, poor visual acuity, CVI, right eye small pale optic disc/left eye a pale optic disc with large excavation, no behavioral abnormalities, occipital frontal head circumference 50th centile, MRI-brain normal 1 1 Johan den Dunnen
00103883 28327206-PatBH5763_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? developmental delay. cortical brain malformation, autism, seizures, optic nerve atrophy 1 1 Johan den Dunnen
00263904 - - - F - - - - 0 - - - Generalized abnormality of skin (HP:0011354); Intellectual disability, mild (HP:0001256); Ptosis (HP:0000508); Restlessness (HP:0000711); Abnormality of skin pigmentation (HP:0001000); Neurodevelopmental abnormality (HP:0012759); Behavioral abnormality (HP:0000708); Impaired pain sensation (HP:0007328); Delayed speech and language development (HP:0000750); Abnormality of higher mental function (HP:0011446); Global developmental delay (HP:0001263); Febrile seizures (HP:0002373); Sensory impairment (HP:0003474) 1 1 Andreas Laner
00296855 - - - F - - - - 0 - - ? Intellectual disability (HP:0001249); Paresthesia (HP:0003401); Abnormal nerve conduction velocity (HP:0040129); Optic atrophy (HP:0000648) 1 1 Andreas Laner
00310033 Proband 1 PubMed: Mio 2020 - M ? Italy Caucasian - 0 - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Epicanthus (HP:0000286); Abnormal subarachnoid space morphology (HP:0012703); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410); Nystagmus (HP:0000639) 1 2 Benjamin Billiet
00310047 Proband 2 PubMed: Mio 2020 - M ? Italy - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Dilation of lateral ventricles (HP:0006956); Intraventricular arachnoid cyst (HP:0012488); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410) 1 1 Benjamin Billiet
00310052 - PubMed: Starosta 2020 - F ? United States - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dehydration (HP:0001944); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Hyperinsulinemia (HP:0000842); Protein-losing enteropathy (HP:0002243); Blindness (HP:0000618); Abnormal aggressive, impulsive or violent behavior (HP:0006919); Hallucinations (HP:0000738); Depressivity (HP:0000716); Delayed puberty (HP:0000823); Carious teeth (HP:0000670); Deep venous thrombosis (HP:0002625); Menorrhagia (HP:0000132); Cholelithiasis (HP:0001081); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Corpus callosum atrophy (HP:0007371); Pituitary gland cyst (HP:0410278); Deeply set eye (HP:0000490); Malar flattening (HP:0000272); Inverted nipples (HP:0003186); Finger clinodactyly (HP:0040019); Pes planus (HP:0001763); Brisk reflexes (HP:0001348); Failure to thrive (HP:0001508); Caesarian section (HP:0011410); Poor suck (HP:0002033); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); 1 1 Benjamin Billiet
00310097 Patient 6 PubMed: Jezela-Stanek (2020) - M ? ? (unknown) - - - - - neuropathy, optic Intellectual disability, severe (HP:0010864); Cerebral palsy (HP:0100021); Seizure (HP:0001250); Gait imbalance (HP:0002141); Recurrent infections (HP:0002719); Narrow palm (HP:0004283); Narrow foot (HP:0001786); Horizontal nystagmus (HP:0000666); Amblyopia (HP:0000646); Delayed myelination (HP:0012448); Optic nerve dysplasia (HP:0001093); Absent speech (HP:0001344); Short attention span (HP:0000736); Broad-based gait (HP:0002136); Abnormality of pain sensation (HP:0010832); Visual impairment (HP:0000505); Limb joint contracture (HP:0003121); High forehead (HP:0000348); Protruding ear (HP:0000411); Widely spaced teeth (HP:0000687); Abnormality of the distal phalanx of the thumb (HP:0009617); Long fingers (HP:0100807); Sandal gap (HP:0001852); Pes valgus (HP:0008081); Pes planus (HP:0001763); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00310201 - PubMed: Bojanek(2019) - M - United States - - - - - neuropathy, optic Hyperbilirubinemia (HP:0002904); Recurrent hand flapping (HP:0100023); Toe walking (HP:0040083); Delayed fine motor development (HP:0010862); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Specific learning disability (HP:0001328); EEG with central sharp waves (HP:0011293); Protruding ear (HP:0000411); Micrognathia (HP:0000347); Cupped ear (HP:0000378); Midface retrusion (HP:0011800); Depressed nasal tip (HP:0000437); Thick vermilion border (HP:0012471); Joint hypermobility (HP:0001382); Optic nerve hypoplasia (HP:0000609); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Speech articulation difficulties (HP:0009088); Impaired executive functioning (HP:0033051); Impaired use of nonverbal behaviors (HP:0000758); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00310203 - PubMed: Park 2019 - M ? Korea - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Delayed fine motor development (HP:0010862); Intellectual disability, borderline (HP:0006889); Attention deficit hyperactivity disorder (HP:0007018); Protruding ear (HP:0000411); Retrognathia (HP:0000278); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Corpus callosum atrophy (HP:0007371); Caesarian section (HP:0011410) 1 1 Benjamin Billiet
00310204 - PubMed: Martin-Hernandez 2018 - F no Spain - - - - - neuropathy, optic Vomiting (HP:0002013); Muscular hypotonia (HP:0001252); Fluctuations in consciousness (HP:0007159); Esodeviation (HP:0020045); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Visual field defect (HP:0001123); Visual impairment (HP:0000505); Elevated serum creatine kinase (HP:0003236); EMG: myopathic abnormalities (HP:0003458); Hypoplasia of the corpus callosum (HP:0002079); Decreased activity of mitochondrial complex IV (HP:0008347); Intellectual disability, moderate (HP:0002342); Abnormality of visual evoked potentials (HP:0000649); Stroke-like episode (HP:0002401); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hemiparesis (HP:0001269) 1 1 Benjamin Billiet
00310373 Case 1 PubMed: Kaiwar 2017 - M ? ? (unknown) - - - - - neuropathy, optic Feeding difficulties (HP:0011968); Global developmental delay (HP:0001263); Infantile spasms (HP:0012469); Inguinal hernia (HP:0000023); Dolichocephaly (HP:0000268); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Short palpebral fissure (HP:0012745); Protruding ear (HP:0000411); Abnormality of the helix (HP:0011039); Aplasia/Hypoplasia of the earlobes (HP:0009906); Skin tags (HP:0010609); Microretrognathia (HP:0000308); Macrodontia (HP:0001572); Absent speech (HP:0001344); Impaired social interactions (HP:0000735); Behavioral abnormality (HP:0000708); Weakness of facial musculature (HP:0030319); Muscular hypotonia (HP:0001252); Decreased muscle mass (HP:0003199); Apraxia (HP:0002186); Brisk reflexes (HP:0001348); Short stature (HP:0004322); Decreased body weight (HP:0004325); Delayed skeletal maturation (HP:0002750); Optic nerve hypoplasia( HP:0000609); EEG with generalized spikes (HP:0012000); Generalized-onset seizure (HP:0002197); Decreased CSF 5-hydroxyindolacetic acid (HP:0025455); Decreased CSF homovanillic acid (HP:0003785); Intellectual disability, severe (HP:0010864); Difficulty walking (HP:0002355); Gastrostomy tube feeding in infancy (HP:0011471); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00310602 Individual 1 PubMed: Chen 2017 - M - ? (unknown) - - - - - neuropathy, optic Muscular hypotonia (HP:0001252); Neurodevelopmental delay (HP:0012758); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Absent speech (HP:0001344); Oromotor apraxia (HP:0007301); Seizure (HP:0001250); Generalized tonic seizure (HP:0010818); Generalized non-motor (absence) seizure (HP:0002121); Autistic behavior (HP:0000729); Corpus callosum atrophy (HP:0007371); Cerebral white matter hypoplasia (HP:0012430); Hearing impairment (HP:0000365); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Delayed ability to stand (HP:0025335); Dysphagia (HP:0002015) 1 1 Benjamin Billiet
00310603 Individual 3 PubMed: Chen 2017 - M ? ? (unknown) - - - - - neuropathy, optic Ventouse delivery (HP:0011412); Cyanosis (HP:0000961); Abnormality of the umbilical cord (HP:0010881); Jaundice (HP:0000952); Optic atrophy (HP:0000648); Impaired smooth pursuit (HP:0007772); Focal-onset seizure (HP:0007359); Encephalopathy (HP:0001298); Reflex seizure (HP:0020207); Delayed myelination (HP:0012448); Cerebellar malformation (HP:0002438); Cerebral white matter atrophy (HP:0012762); Neurodevelopmental delay (HP:0012758); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Cerebral visual impairment HP:0100704; Repetitive compulsive behavior (HP:0008762) 1 1 Benjamin Billiet
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); 1 1 Benjamin Billiet
00311369 ID 25 PubMed: Rech 2020 - M ? ? (unknown) - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Typical absence seizure (HP:0011147); Tonic seizure (HP:0032792); Abnormality of temperature regulation (HP:0004370); Obsessive-compulsive behavior (HP:0000722) 1 1 Benjamin Billiet
00311370 ID 26 PubMed: Rech 2020 - M ? ? (unknown) - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Alacrima (HP:0000522); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Abnormality of temperature regulation (HP:0004370) 1 1 Benjamin Billiet
00311372 ID 34 PubMed: Rech 2020 - M ? ? (unknown) - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365) 1 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 1 1 Andreas Laner
00358820 - - - F - (France) - - 0 - - neuropathy, optic Optic atrophy (HP:0000648) 1 1 Marc Ferre
00358821 - - - F - (France) - - 0 - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Dysarthria (HP:0001260); Reduced visual acuity HP:0007663; Hyperintensity of cerebral white matter on MRI (HP:0030890) 1 1 Marc Ferre
00359597 - - - M ? France - - - - - BBSOAS Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Nystagmus (HP:0000639) 1 1 Benjamin Billiet
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