All individuals with variants in gene NR2F1

89 entries on 1 page. Showing entries 1 - 89.
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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 - - - 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 - 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 ? - - - - - - 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 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); 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
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