NR2F1

Graph and Chart

Patient Overview : 30

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 53.3% 16/30
Female 46.7% 14/30
Neurology    
Neurological abnormalities 80.0% 24/30
Generalized neonatal hypotonia 3.3% 1/30
Seizures 16.7% 5/30
Generalized tonic-clonic seizures 6.7% 2/30
Central hypotonia 16.7% 5/30
Infantile spasms 6.7% 2/30
Febrile seizures 3.3% 1/30
Neonatal hypotonia 30.0% 9/30
Atonic seizures 3.3% 1/30
Septo-optic dysplasia 3.3% 1/30
Optic atrophy 3.3% 1/30
Generalized seizures 3.3% 1/30
Repetitive compulsive behavior 3.3% 1/30
Generalized hypotonia 13.3% 4/30
Spasticity 6.7% 2/30
Myopathic facies 3.3% 1/30
Limb hypertonia 3.3% 1/30
Dysdiadochokinesis 3.3% 1/30
Dysmetria 3.3% 1/30
Infantile axial hypotonia 6.7% 2/30
Hypokinesia 3.3% 1/30
Bradykinesia 3.3% 1/30
Dystonia 3.3% 1/30
Intention tremor 3.3% 1/30
Hypsarrhythmia 3.3% 1/30
EEG with centrotemporal focal spike waves 3.3% 1/30
Focal seizures 3.3% 1/30
Sleep disturbance 3.3% 1/30
Agitation 3.3% 1/30
Obsessive-compulsive behavior 3.3% 1/30
Episodic fever 3.3% 1/30
Episodic fatigue 3.3% 1/30
Behavioral problems 46.7% 14/30
Autism 30.0% 9/30
Repetitive compulsive behavior 20.0% 6/30
Aggressive behavior 10.0% 3/30
Attention deficit hyperactivity disorder 20.0% 6/30
Perseveration 3.3% 1/30
Emotional lability 3.3% 1/30
Head-banging 3.3% 1/30
Obsessive-compulsive behavior 6.7% 2/30
Brain abnormality 50.0% 12/24
Cerebral white matter hypoplasia 4.2% 1/24
Hypoplasia of the corpus callosum 29.2% 7/24
Hypoplasia of the optic tract 12.5% 3/24
Delayed myelination 8.3% 2/24
Optic atrophy 8.3% 2/24
Optic nerve hypoplasia 8.3% 2/24
Corticospinal tract hypoplasia 4.2% 1/24
Abnormal cortical gyration 4.2% 1/24
Agenesis of corpus callosum 4.2% 1/24
Dysplastic corpus callosum 4.2% 1/24
Abnormality of the periventricular white matter 4.2% 1/24
Facial abnormalities    
Abnormality of the ear 33.3% 10/30
Cupped ear 3.3% 1/30
Auricular tag 3.3% 1/30
Low-set ears 3.3% 1/30
Large earlobe 6.7% 2/30
Posteriorly rotated ears 3.3% 1/30
Overfolded helix 3.3% 1/30
Pointed helix 3.3% 1/30
Protruding ear 10.0% 3/30
Prominent antihelix 3.3% 1/30
Darwin tubercle of helix 3.3% 1/30
Long ear 3.3% 1/30
Hypoplastic helices 3.3% 1/30
Abnormality of the eye 26.7% 8/30
Epicanthus 6.7% 2/30
Small palpebral fissure 6.7% 2/30
Downslanted palpebral fissures 3.3% 1/30
Upslanted palpebral fissure 6.7% 2/30
Optic atrophy 3.3% 1/30
Large eyes 3.3% 1/30
Abnormality of the nose 13.3% 4/30
Wide nasal bridge 3.3% 1/30
Narrow nasal ridge 3.3% 1/30
Prominent nasal bridge 3.3% 1/30
Long nose 3.3% 1/30
Prominent nasal tip 3.3% 1/30
Anosmia 3.3% 1/30
Abnormality of the mouth 23.3% 7/30
Narrow mouth 3.3% 1/30
High palate 6.7% 2/30
Wide mouth 6.7% 2/30
Long hallux 3.3% 1/30
Thin upper lip vermilion 6.7% 2/30
Thick lower lip vermilion 3.3% 1/30
Visual and hearing impairments    
Abnormal hearing 17.2% 5/29
Hearing impairment 13.8% 4/29
Bilateral conductive hearing impairment 3.4% 1/29
Abnormal vision 100.0% 30/30
Optic nerve hypoplasia 23.3% 7/30
Visual impairment 50.0% 15/30
Cortical visual impairment 40.0% 12/30
Abnormality of the optic disc 3.3% 1/30
Amblyopia 10.0% 3/30
Esotropia 16.7% 5/30
Optic atrophy 23.3% 7/30
Exotropia 6.7% 2/30
Nystagmus 33.3% 10/30
Hypermetropia 26.7% 8/30
Astigmatism 3.3% 1/30
Abnormality of refraction 3.3% 1/30
Constriction of peripheral visual field 6.7% 2/30
Aplasia/Hypoplasia of the macula 3.3% 1/30
Optic disc pallor 30.0% 9/30
Severe visual impairment 6.7% 2/30
Strabismus 40.0% 12/30
Coloboma 3.3% 1/30
Visual field defect 13.3% 4/30
Abnormality of eye movement 10.0% 3/30
Optic disc hypoplasia 6.7% 2/30
Myopia 6.7% 2/30
Corneal opacity 3.3% 1/30
Temporal optic disc pallor 3.3% 1/30
Pallor 3.3% 1/30
Abnormality of vision 3.3% 1/30
Keratitis 3.3% 1/30
Retinal atrophy 3.3% 1/30
Keratoconus 3.3% 1/30
Moderate visual impairment 3.3% 1/30
Heart    
Abnormality of the heart 3.3% 1/30
Atria septal defect 3.3% 1/30
Gastrointestinal    
Gastrointestinal abnormalities 40.0% 12/30
Feeding difficulties in infancy 10.0% 3/30
Failure to thrive 6.7% 2/30
Feeding difficulties 16.7% 5/30
Poor suck 10.0% 3/30
Gastroesophageal reflux 3.3% 1/30
Bowel incontinence 3.3% 1/30
Urogenital    
Abnormality of the urogenital system 3.3% 1/30
Urinary incontinence 3.3% 1/30
Skeleton    
Skeletal abnormalities 13.3% 4/30
Joint laxity 6.7% 2/30
Ligamentous laxity 3.3% 1/30
Increased laxity of fingers 3.3% 1/30
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 3.3% 1/30
Decreased circulating cortisol level 3.3% 1/30
Neoplasia    
Neoplasia 3.3% 1/30
Teratoma 3.3% 1/30