All individuals with variants in gene NR2F1

162 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00039400 Pat1;Pat13 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - >12y - - - 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) 1 1 Danielle Bosch
00039410 Individual 2 PubMed: Bosch 2014, Journal: Bosch 2014, PubMed: Bosch 2016, Journal: Bosch 2016 - F no Netherlands - >02y - - - 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) 1 1 Danielle Bosch
00043807 Individual 3 PubMed: Bosch 2014, Journal: Bosch 2014 - F no - - >18y - - - 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) 1 1 Johan den Dunnen
00043808 Individual 6 PubMed: Bosch 2014, Journal: Bosch 2014 - F no United States - >35y - - - ? Underfolded helix (HP:0008577); Darwin tubercle of helix (HP:0011261); Pointed chin (HP:0000307); Synophrys (HP:0000664); Dysdiadochokinesis (HP:0002075); Spasticity (HP:0001257); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Keratoconus (HP:0000563); Optic atrophy (HP:0000648); Retinal atrophy (HP:0001105); Absent foveal reflex (HP:0030825); Keratoconjunctivitis sicca (HP:0001097); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Obsessive-compulsive behavior (HP:0000722) 1 1 Marc Ferre
00043809 - PubMed: Bosch 2014, Journal: Bosch 2014 Father, unaffected heterozygous carrier sister and son M no - - >68y - - - OPA Optic atrophy (HP:0000648) 1 1 Johan den Dunnen
00043810 Individual 4 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >24y - - - CVI Tapered finger (HP:0001182); Abnormal finger flexion creases (HP:0006143); 2-3 toe syndactyly (HP:0004691); Feeding difficulties in infancy (HP:0008872); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Nystagmus (HP:0000639); Cataract (HP:0000518); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Intellectual disability, mild (HP:0001256) 1 1 Marc Ferre
00043811 Individual 5 PubMed: Bosch 2014, Journal: Bosch 2014 - F - - - >04y - - - CVI Prominent nasal bridge (HP:0000426); Prominent antihelix (HP:0000395); Clinodactyly of the 5th finger (HP:0004209); Feeding difficulties in infancy (HP:0008872); 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); Neurodevelopmental delay (HP:0012758);Cerebral visual impairment (HP:0100704) 1 1 Marc Ferre
00103883 28327206-PatBH5763_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - ? Cortical dysplasia (HP:0002539); Autistic behavior (HP:0000729); Neurodevelopmental delay (HP:0012758); Seizure (HP:0001250); Optic atrophy (HP:0000648); Arnold-Chiari type I malformation (HP:0007099) 1 1 Johan den Dunnen
00263904 - - - F - - - - - - - - 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 - - - - - - - ? 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 white - - - - 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) 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 ? - - - - - - 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 patient;NR2F1_10;Pat59 PubMed: Park 2019, PubMed: Jurkute 2021, PubMed: Moon 2021 - 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 ? - - - - - - 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 2016 - M - - - - - - - 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 2016 - M ? - - - - - - 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
00311023 Individual 4 PubMed: Chen 2016 - F ? - - - - - - neuropathy, optic Feeding difficulties (HP:0011968); Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Corpus callosum atrophy (HP:0007371); Atonic seizure (HP:0010819); EEG abnormality (HP:0002353); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Esotropia (HP:0000565); Exotropia (HP:0000577); Optic atrophy (HP:0000648); Attenuation of retinal blood vessels (HP:0007843) 1 1 Benjamin Billiet
00311026 Individual 5 PubMed: Chen 2016 - M ? - - - - - - neuropathy, optic Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Neurodevelopmental delay (HP:0012758); Absent speech (HP:0001344); Inability to walk (HP:0002540); Optic atrophy (HP:0000648); Septo-optic dysplasia (HP:0100842); Corpus callosum atrophy (HP:0007371); Behavioral abnormality (HP:0000708) 1 1 Benjamin Billiet
00311042 Individual 8 PubMed: Chen 2016 - F ? - - - - - - neuropathy, optic Caesarian section (HP:0011410); Preauricular skin tag (HP:0000384); Low-set ears (HP:0000369); Synophrys (HP:0000664); Muscular hypotonia (HP:0001252); Infantile spasms (HP:0012469); Absent speech (HP:0001344); Inability to walk (HP:0002540); Delayed ability to sit (HP:0025336); Failure to thrive (HP:0001508); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Corpus callosum atrophy (HP:0007371); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311043 Individual 9 PubMed: Chen 2016 - M ? - - - - - - neuropathy, optic Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Neurodevelopmental delay (HP:0012758); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Attention deficit hyperactivity disorder (HP:0007018); Autistic behavior (HP:0000729); Recurrent otitis media (HP:0000403); Hearing impairment (HP:0000365); Seizure (HP:0001250); Synophrys (HP:0000664); High palate (HP:0000218); Retrognathia (HP:0000278); Protruding ear (HP:0000411); Broad distal phalanx of finger (HP:0009836); Broad hallux (HP:0010055); Cerebral visual impairment (HP:0100704); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Abnormality of eye movement (HP:0000496); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103) 1 1 Benjamin Billiet
00311044 Individual 10 PubMed: Chen 2016 - M ? - - - - - - neuropathy, optic Caesarian section (HP:0011410); Preeclampsia (HP:0100602); Delayed speech and language development (HP:0000750); Blindness (HP:0000618); Optic nerve hypoplasia (HP:0000609); Strabismus (HP:0000486); Impaired mastication (HP:0005216); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311045 Individual 11 PubMed: Chen 2016 - M ? - - - - - - neuropathy, optic Caesarian section (HP:0011410); Muscular hypotonia (HP:0001252); Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Optic nerve hypoplasia (HP:0000609); Neurodevelopmental delay (HP:0012758); Delayed ability to walk (HP:0031936); Delayed ability to sit (HP:0025336); Delayed speech and language development (HP:0000750); Autistic behavior (HP:0000729); Emotional lability (HP:0000712); Poor eye contact (HP:0000817); Head-banging (HP:0012168); Impaired mastication (HP:0005216); Mild hearing impairment (HP:0012712); Spasticity (HP:0001257); Joint hypermobility (HP:0001382); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311046 Individual 12 PubMed: Chen 2016 - F ? - - - - - - neuropathy, optic Intrauterine growth retardation (HP:0001511); Poor suck (HP:0002033); Feeding difficulties (HP:0011968); Failure to thrive (HP:0001508); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Optic nerve hypoplasia (HP:0000609); Corpus callosum atrophy (HP:0007371); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311047 Individual 14 PubMed: Chen 2016 - F ? - - - - - - neuropathy, optic Atrial septal defect (HP:0001631); Posteriorly rotated ears (HP:0000358); Epicanthus (HP:0000286); Wide nasal bridge (HP:0000431); Narrow palpebral fissure (HP:0045025); Retrognathia (HP:0000278); High palate (HP:0000218); Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Dysphagia (HP:0002015); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Blindness (HP:0000618); Coloboma (HP:0000589); Esotropia (HP:0000565); Hypermetropia (HP:0000540); Nystagmus (HP:0000639); Optic nerve hypoplasia (HP:0000609); Seizure (HP:0001250); Obsessive-compulsive behavior (HP:0000722); Stereotypical hand wringing (HP:0012171); Skin-picking (HP:0012166); Attention deficit hyperactivity disorder (HP:0007018); Morphological central nervous system abnormality (HP:0002011); Corpus callosum atrophy (HP:0007371); Corticospinal tract atrophy (HP:0007117); Hearing impairment (HP:0000365); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311061 Individual 15 PubMed: Chen 2016 - M ? - - - - - - neuropathy, optic Muscular hypotonia (HP:0001252); Neonatal breathing dysregulation (HP:0002790); Cyanosis (HP:0000961); Poor suck (HP:0002033); Dysphagia (HP:0002015); Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Narrow palpebral fissure (HP:0045025); Large forehead (HP:0002003); Frontal balding (HP:0002292); Decreased muscle mass (HP:0003199); Limb hypertonia (HP:0002509); Dysmetria (HP:0001310); Dysdiadochokinesis (HP:0002075); Impaired tandem gait (HP:0031629); Optic atrophy (HP:0000648); Clonic seizure (HP:0020221); Dysgyria (HP:0032398); Dysgenesis of the hippocampus (HP:0025101); Abnormality of lateral ventricle (HP:0030047) 1 1 Benjamin Billiet
00311063 Individual 16 PubMed: Chen 2016 - F ? - - - - - - neuropathy, optic Caesarian section (HP:0011410); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Joint laxity (HP:0001388); Strabismus (HP:0000486); Nystagmus (HP:0000639); Hypermetropia (HP:0000540); Optic atrophy (HP:0000648); Macular hyperpigmentation (HP:0011509); Conductive hearing impairment (HP:0000405); Chronic otitis media (HP:0000389); Attention deficit hyperactivity disorder (HP:0007018); Abnormality of visual evoked potentials (HP:0000649) 1 1 Benjamin Billiet
00311064 Individual 17 PubMed: Chen 2016 - M ? - - - - - - neuropathy, optic Ventouse delivery (HP:0011412); Neurodevelopmental delay (HP:0012758); Attention deficit hyperactivity disorder (HP:0007018); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Hypermetropia (HP:0000540); Red-green dyschromatopsia (HP:0000642); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Downslanted palpebral fissures (HP:0000494); Joint hypermobility (HP:0001382); Clinodactyly of the 5th finger (HP:0004209); Broad foot (HP:0001769); Long hallux (HP:0001847); Short 4th toe (HP:0008093); Short 5th toe (HP:0011917); Hypoplasia of the fovea (HP:0007750); Nystagmus (HP:0000639) 1 2 Benjamin Billiet
00311065 Individual 18 PubMed: Chen 2016 - M no - - - - - - neuropathy, optic Inspiratory stridor (HP:0005348); Apnea (HP:0002104); Choking episodes (HP:0030842); Feeding difficulties (HP:0011968); Motor delay (HP:0001270); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Hypokinesia (HP:0002375); Bradykinesia (HP:0002067); Dystonia (HP:0001332); Muscular hypotonia of the trunk (HP:0008936); Deeply set eye (HP:0000490); Upslanted palpebral fissure (HP:0000582); Wide mouth (HP:0000154); Abnormality of the helix (HP:0011039); Protruding ear (HP:0000411); Large earlobe (HP:0009748); Finger joint hypermobility (HP:0006094); Clinodactyly of the 5th finger (HP:0004209); Long hallux (HP:0001847); Prominent veins on trunk (HP:0007457); Agenesis of corpus callosum (HP:0001274); Abnormality of optic chiasm morphology (HP:0025163); Delayed CNS myelination (HP:0002188); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of ocular smooth pursuit (HP:0000617); Optic atrophy (HP:0000648); Abnormal cerebellum morphology (HP:0001317); 1 1 Benjamin Billiet
00311066 Individual 19 PubMed: Chen 2016 - M ? - - - - - - neuropathy, optic Amblyopia (HP:0000646); Strabismus (HP:0000486); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729); Optic atrophy (HP:0000648); Intellectual disability, borderline (HP:0006889) 1 1 Benjamin Billiet
00311067 - PubMed: Hino-Fukuyo 2017 - F no Japan - - - - - neuropathy, optic Infantile spasms (HP:0012469); Epileptic spasm (HP:0011097); Hypsarrhythmia (HP:0002521); Spastic tetraparesis (HP:0001285); Neurodevelopmental delay (HP:0012758); Abnormal flash visual evoked potentials (HP:0007928); Optic atrophy (HP:0000648); EEG with frontal focal spikes (HP:0012015); EEG with occipital focal spikes (HP:0012016); Seizure precipitated by febrile infection (HP:0032894); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Smooth philtrum (HP:0000319); Micrognathia (HP:0000347); Enlarged naris (HP:0009931); Intellectual disability (HP:0001249); 1 1 Benjamin Billiet
00311077 P1 PubMed: Bertacchi 2020 - F ? France - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Infantile spasms (HP:0012469); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Hyperactivity (HP:0000752); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Optic nerve hypoplasia (HP:0000609); Abnormality of optic chiasm morphology (HP:0025163); Abnormal cortical gyration (HP:0002536); 1 1 Benjamin Billiet
00311078 P3;NR2F1_4 PubMed: Bertacchi 2020, PubMed: Jurkute 2021 - F ? France - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); Precocious puberty (HP:0000826); Intellectual disability (HP:0001249); Stereotypy (HP:0000733); Attention deficit hyperactivity disorder (HP:0007018); Strabismus (HP:0000486); Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Cerebellar vermis atrophy (HP:0006855); Gray matter heterotopia (HP:0002282); Abnormal cortical gyration (HP:0002536) 1 1 Benjamin Billiet
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) 1 1 Benjamin Billiet
00311080 P4 PubMed: Bertacchi 2020 - F ? France - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Abnormality of optic chiasm morphology (HP:0025163); Hypoplasia of the corpus callosum (HP:0002079); Abnormal cortical gyration (HP:0002536); Delayed speech and language development (HP:0000750); Hyperactivity (HP:0000752); Abnormality of the cerebral cortex (HP:0002538); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311089 P5 PubMed: Bertacchi 2020 - F - France - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Stereotypy (HP:0000733); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Hypermetropia (HP:0000540); Nystagmus (HP:0000639); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Abnormal cortical gyration (HP:0002536) 1 1 Benjamin Billiet
00311090 P6 PubMed: Bertacchi 2020 - M ? France - - - - - neuropathy, optic Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Pectus excavatum (HP:0000767); Pes planus (HP:0001763); Scoliosis (HP:0002650); Triangular face (HP:0000325); Thin upper lip vermilion (HP:0000219); Anteverted nares (HP:0000463); High palate (HP:0000218); Gastroesophageal reflux (HP:0002020); Apnea (HP:0002104); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Hypermetropia (HP:0000540); Reduced visual acuity (HP:0007663); Severe constriction of peripheral visual field (HP:0030526); Short corpus callosum (HP:0200012); Optic nerve hypoplasia (HP:0000609); Abnormality of optic chiasm morphology (HP:0025163); Hypoplastic olfactory lobes (HP:0006894); Abnormal cortical gyration (HP:0002536) 1 1 Benjamin Billiet
00311091 - PubMed: Al-Kateb 2013 - M ? - - - - - - neuropathy, optic Feeding difficulties in infancy (HP:0008872); Gastrostomy tube feeding in infancy (HP:0011471); Gastroesophageal reflux (HP:0002020); Muscular hypotonia (HP:0001252); Ureteropelvic junction obstruction (HP:0000074); Strabismus (HP:0000486); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Mild conductive hearing impairment (HP:0008598); Global developmental delay (HP:0001263); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Gait disturbance (HP:0001288); Impaired tandem gait (HP:0031629); Delayed fine motor development (HP:0010862); Attention deficit hyperactivity disorder (HP:0007018); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Smooth philtrum (HP:0000319); Micrognathia (HP:0000347); Flared nostrils (HP:0000454); Posteriorly rotated ears (HP:0000358); Pectus carinatum (HP:0000768); Abnormality of optic chiasm morphology (HP:0025163); Low hanging columella (HP:0009765) 1 1 Benjamin Billiet
00311092 DGAP169 PubMed: Brown 2009 - F - - - - - - - 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
00311093 - PubMed: Walsh 2020 - M ? - - - - - - neuropathy, optic Polyhydramnios (HP:0001561); Caesarian section (HP:0011410); Neurodevelopmental delay (HP:0012758); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Generalized myoclonic-atonic seizure (HP:0011170); Nystagmus (HP:0000639); Hypermetropia (HP:0000540); Reduced visual acuity (HP:0007663); Conductive hearing impairment (HP:0000405); Phimosis (HP:0001741); Syringomyelia (HP:0003396); Optic nerve hypoplasia (HP:0000609); Abnormality of optic chiasm morphology (HP:0025163); Hypoplasia of the corpus callosum (HP:0002079); Autistic behavior (HP:0000729); Macrocephaly (HP:0000256); Broad forehead (HP:0000337); Low-set ears (HP:0000369); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311172 Case 2 PubMed: Kaiwar 2017 - F ? - - - - - - 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) 1 1 Benjamin Billiet
00311174 Individual 2 PubMed: Chen 2016 - F ? - - - - - - 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) 1 1 Benjamin Billiet
00311175 Individual 6 PubMed: Chen 2016 - M ? - - - - - - 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) 1 1 Benjamin Billiet
00311176 Individual 7 PubMed: Chen 2016 - M ? - - - - - - 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) 1 1 Benjamin Billiet
00311177 Individual 13 PubMed: Chen 2016 - F ? - - - - - - 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); 1 1 Benjamin Billiet
00311178 Individual 20 PubMed: Chen 2016 - F ? - - - - - - 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) 1 1 Benjamin Billiet
00311179 Patient 12A926 PubMed: Dimassi 2016 - M ? - - - - - - 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) 1 1 Benjamin Billiet
00311360 ID 2 PubMed: Rech 2020 - F ? - - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Hypoplasia of the corpus callosum (HP:0002079); Infantile spasms (HP:0012469); Short stature (HP:0004322); Autistic behavior (HP:0000729); Hearing abnormality (HP:0000364) 1 1 Benjamin Billiet
00311361 ID3 PubMed: Rech 2020 - F ? - - - - - - 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); Head-banging (HP:0012168); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Infantile spasms (HP:0012469); Focal-onset seizure (HP:0007359); Myoclonus (HP:0001336); 1 1 Benjamin Billiet
00311362 ID4 PubMed: Rech 2020 - F ? - - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); 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); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Abnormality of brain morphology (HP:0012443); Infantile spasms (HP:0012469); Typical absence seizure (HP:0011147); 1 1 Benjamin Billiet
00311363 ID6 PubMed: Rech 2020 - M ? - - - - - - 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); Behavioral abnormality (HP:0000708); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); 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); Brain atrophy (HP:0012444); Myoclonic seizure (HP:0032794); Hearing impairment (HP:0000365); Short stature (HP:0004322) 1 1 Benjamin Billiet
00311364 ID7 PubMed: Rech 2020 - M ? - - - - - - 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); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Abnormal cerebral morphology (HP:0002060); Typical absence seizure (HP:0011147); Myoclonic seizure (HP:0032794); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365); Head-banging (HP:0012168); Attention deficit hyperactivity disorder (HP:0007018) 1 1 Benjamin Billiet
00311365 ID8 PubMed: Rech 2020 - F ? - - - - - - 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); Behavioral abnormality (HP:0000708); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Sleep disturbance (HP:0002360); Abnormality of temperature regulation (HP:0004370); 1 1 Benjamin Billiet
00311366 ID 9 PubMed: Rech 2020 - F ? - - - - - - 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); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Abnormality of optic chiasm morphology (HP:0025163); 1 1 Benjamin Billiet
00311367 ID 15 PubMed: Rech 2020 - F ? - - - - - - 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); Behavioral abnormality (HP:0000708); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Infantile spasms (HP:0012469); 1 1 Benjamin Billiet
00311368 ID 20 PubMed: Rech 2020 - M ? - - - - - - 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); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Sleep disturbance (HP:0002360); Impaired pain sensation (HP:0007328); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Delayed myelination (HP:0012448); 1 1 Benjamin Billiet
00311369 ID 25 PubMed: Rech 2020 - M ? - - - - - - 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 ? - - - - - - 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
00311371 ID 33 PubMed: Rech 2020 - M ? - - - - - - BBSOAS Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); 1 1 Benjamin Billiet
00311372 ID 34 PubMed: Rech 2020 - M ? - - - - - - 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
00311373 ID 42 PubMed: Rech 2020 - F ? - - - - - - 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); Auditory hallucinations (HP:0008765); Visual impairment (HP:0000505); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Seizure (HP:0001250); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00311375 ID 46 PubMed: Rech 2020 - F ? - - - - - - 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); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163) 1 1 Benjamin Billiet
00311376 ID 49 PubMed: Rech 2020 - F ? - - - - - - neuropathy, optic Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Intellectual disability, borderline (HP:0006889); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Attention deficit hyperactivity disorder (HP:0007018); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Sleep disturbance (HP:0002360); Generalized myoclonic seizure (HP:0002123); Typical absence seizure (HP:0011147); 1 1 Benjamin Billiet
00311377 ID 50 PubMed: Rech 2020 - M ? - - - - - - neuropathy, optic Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Attention deficit hyperactivity disorder (HP:0007018); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Sleep disturbance (HP:0002360); Abnormal cerebral morphology (HP:0002060); Atonic seizure (HP:0010819); Abnormality of temperature regulation (HP:0004370) 1 1 Benjamin Billiet
00311378 ID 54 PubMed: Rech 2020 - F ? - - - - - - 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); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Optic nerve hypoplasia (HP:0000609); Abnormality of temperature regulation (HP:0004370); Optic atrophy (HP:0000648) 1 1 Benjamin Billiet
00312023 - - - F - France - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Global developmental delay (HP:0001263) 1 2 Benjamin Billiet
00312024 - - - F ? France - - - - - BBSOAS Intellectual disability (HP:0001249); Amblyopia (HP:0000646) 1 1 Benjamin Billiet
00312025 - - - F no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Reduced visual acuity (HP:0007663); Developmental cataract (HP:0000519); Hearing impairment (HP:0000365); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Congenital hip dislocation (HP:0001374); 1 2 Benjamin Billiet
00312026 - - - F no France - - - - - BBSOAS Hearing impairment (HP:0000365); Herniation of intervertebral nuclei (HP:0008441) 1 1 Benjamin Billiet
00312027 - - - M no France - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Generalized myoclonic seizure (HP:0002123); Intellectual disability (HP:0001249); Thick lower lip vermilion (HP:0000179); Protruding ear (HP:0000411); Abnormality of the outer ear (HP:0000356); Midface retrusion (HP:0011800) 1 1 Benjamin Billiet
00312028 - - - M no France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Visual impairment (HP:0000505); Cognitive impairment (HP:0100543); Delayed ability to walk (HP:0031936); Abnormality of coordination (HP:0011443); Nystagmus (HP:0000639); Abnormality iris morphology (HP:0000525) 1 1 Benjamin Billiet
00312029 - - - F - France - - - - - neuropathy, optic Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Amblyopia (HP:0000646); Esotropia (HP:0000565); Intrauterine growth retardation (HP:0001511) 1 1 Benjamin Billiet
00312526 - - - M ? France - - - - - neuropathy, optic Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Epidural hemorrhage (HP:0100310); Carotid artery dissection (HP:0012158); Fractured clavicle bone (HP:0041144); Depressivity (HP:0000716); Memory impairment (HP:0002354); Cognitive impairment (HP:0100543); Alcoholism (HP:0030955) 1 1 Benjamin Billiet
00313944 - PubMed: Zou 2020 - F no China - - - - - neuropathy, optic Low-set ears (HP:0000369); High forehead (HP:0000348); Reduced visual acuity (HP:0007663); Esotropia (HP:0000565); Optic atrophy (HP:0000648); Abnormal retinal nerve fiber layer morphology (HP:0020119); Abnormality of visual evoked potentials (HP:0000649) 1 1 Benjamin Billiet
00313951 - PubMed: Hobbs 2020 - M - - - - - - - neuropathy, optic Psychosis (HP:0000709); Optic atrophy (HP:0000648); Intellectual disability (HP:0001249); Seizure (HP:0001250); Decreased activity of mitochondrial complex I (HP:0011923) 1 1 Benjamin Billiet
00314752 - PubMed: Balciuniene 2019 - ? ? - - - - - - BBSOAS - 1 1 Benjamin Billiet
00320445 172742 - - F - Germany - - - - - 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) 1 1 Andreas Laner
00358820 - - - F - (France) - - - - - neuropathy, optic Optic atrophy (HP:0000648) 1 1 Marc Ferre
00358821 - - - F - (France) - - - - - 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
00376160 - - - M - (France) - - - - - neuropathy, optic Optic atrophy (HP:0000648) 1 1 Marc Ferre
00379757 IR_GH_0103 - - F - Korea, South (Republic) - - - - - OPA Severely reduced visual acuity (HP:0001141); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Visual field defect (HP:0001123); Nystagmus (HP:0000639); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Optic atrophy (HP:0000648) 1 1 Jinu Han
00385119 Patient 85 PubMed: Vissers 2017 - F no - - - - - - ? Psychomotor retardation (HP:0025356); Abnormality of brain morphology (HP:0012443) 1 1 Marc Ferre
00412269 - - - - - - - - - - - ? - 1 1 Jinu Han
00412270 - - - - - - - - - - - ? - 1 1 Jinu Han
00412271 - - - - - - - - - - - ? - 1 1 Jinu Han
00440364 PED1691.3 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00440424 PED2612.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00444203 NR2F1_1 PubMed: Jurkute 2021 - F - Spain - - - - - NDD developmental delay (mild), almost normal speech abilities; behavioural disorders: attention deficit hyperactivity disorder and autism spectrum disorder; balance and coordination deficits; occasional generalized epileptic-like anomalies during light sleep, 4y8m-febrile seizures; low thyroid-stimulating hormone; hypotonia and hyperlaxity; mild facial asymmetry; thinning of corpus callosum 1 1 Johan den Dunnen
00444204 NR2F1_2 PubMed: Jurkute 2021 - F - Korea - - - - - NDD developmental delay and speech difficulties, Learning disability; balance and coordination deficits; no epilepsy; mild facial dysmorphism; brain imaging normal 1 1 Johan den Dunnen
00444205 NR2F1_3;Pat58 PubMed: Jurkute 2021, PubMed: Moon 2021 - M - Korea - - - - - NDD developmental delay; 15m-walk; learning disability; no balance and coordination deficits; no epilepsy; brain imaging normal 1 1 Johan den Dunnen
00444206 NR2F1_5 PubMed: Jurkute 2021 - M - - - - - - - NDD global developmental delay and delayed visual maturation, Autism spectrum disorder, Learning disability; ; balance and coordination deficits; febrile seizure (single episode); 34wg+6 preterm birth, Macrocephaly, Morgagni hernia (laparoscopic repair), Arterial wall aneurysm, History of elevated liver enzymes, History of respiratory distress, Moderate-severe hypotonia; moderate diffuse thinning of the posterior body and splenium of the corpus callosum, Mild T2 prolongation in the periatrial region with associated white matter volume loss (periventricular leukomalacia), Diffuse marked thinning of the optic chiasm and optic nerves bilaterally with abnormal T2/FLAIR hyperintensity. 1 1 Johan den Dunnen
00444207 NR2F1_6 PubMed: Jurkute 2021 - M - - - - - - - NDD global developmental delay and learning disability; no balance and coordination deficits; no epilepsy; ocular torticollis, Hypotonia; minimally foreshortened corpus callosum, Slightly hyperintense central tegmental tracts and brainstem (nonspecific) 1 1 Johan den Dunnen
00444208 NR2F1_7 PubMed: Jurkute 2021 - M - - - - - - - NDD pervasive developmental disorder with speech delay and global apraxia, Behavioural disorders: attention deficit hyperactivity disorder and autism spectrum disorder, Learning disability; balance and coordination deficits; myoclonic epilepsy, Focal impaired- awareness seizures; recurrent otitis media; brain imaging normal except for subtle white matter abnormalities in the inferior optic radiations and occipital lobes 1 1 Johan den Dunnen
00444209 NR2F1_8 PubMed: Jurkute 2021 - F - - - - - - - NDD global developmental delay, learning disability; balance and coordination deficits; infantile spasms, myoclonic epilepsy; mild dysmorphism, hypotonia; decreased white matter volume, most notably at the level of the centrum semiovale consistent with atrophy, thinning of the corpus callosum with decreased myelination, in particular at the level of the splenium 1 1 Johan den Dunnen
00444210 NR2F1_9 PubMed: Jurkute 2021 - M - - - - - - - NDD developmental delay: delayed fine and gross motor skills, developmental coordination disorder, expressive language delay and dyslexia, Autism spectrum disorder with anxiety and limited attention span, Learning disability; balance and coordination deficits; no epilepsy, silent gastro-esophageal reflux in infancy, Frequent ear infections resolved with grommets; general reduction in white matter volume with slender optic nerves 1 1 Johan den Dunnen
00444211 NR2F1_11 PubMed: Jurkute 2021 - M - - - - - - - NDD global developmental delay and learning disability; balance and coordination deficits; no epilepsy; congenital heart disease: atrial septal defect and patent ductus arteriosus (surgical repair), Chronic lung disease with pulmonary hypertension (bilateral upper pulmonary vein atresia), Congenital bilateral foot deformities: right vertical talus (surgical repair) and mild left hindfoot valgus deformity, Left cryptorchidism (surgical repair), Severe preterm birth (gestational age 27 weeks and 3 days), Hypotonia, Microcephaly, Dysmorphisms, Feeding difficulties and poor growth with G-tube dependence, Non-identical twin has evidence of developmental delay with complications of prematurity; CT brain Mildly prominent lateral and third ventricles, Prominence of the cerebrospinal fluid spaces over the frontal lobes, Mild prominence of the supratentorial subarachnoid spaces and ventricles, suggesting volume loss; MRI brain borderline or low-normal thickness of the optic chiasm, Optic nerves likely still within the normal range, Olfactory bulbs not visualised on either side, Shallow or absent olfactory sulci in some parts along their course, Small subcortical 3 mm focus of increased T2/FLAIR hyperintensity and T1 hypointensity without contrast enhancement in the right posterior medial temporal lobe (unchanged on 3-month follow up MRI), Nonspecific – though possibly a small cystic structure versus low-grade neoplasm), Normal size, shape and configuration of the ventricular system 1 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.