NR2F1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 53.3% | 16/30 |
| Female | 46.7% | 14/30 |
| Indifferent | 0% | 0/30 |
| Unknown | 0% | 0/30 |
| General | ||
| Birth Length abnormalities | 10.0% | 1/10 |
| > P98 : Birth length greater than 97th percentile | 10.0% | 1/10 |
| Birth Weight abnormalities | 0% | 0/23 |
| Birth Head circumference abnormalities | 0% | 0/3 |
| Current Height abnormalities | 17.6% | 3/17 |
| < P3 : Short stature | 11.8% | 2/17 |
| > P98 : Tall stature | 5.9% | 1/17 |
| Current Weight abnormalities | 14.3% | 1/7 |
| < P3 : Decreased body weight | 14.3% | 1/7 |
| Current Head circumference abnormalities | 23.5% | 4/17 |
| > P98 : Macrocephaly | 23.5% | 4/17 |
| Neurology | ||
| Neurological abnormalities | 80.0% | 24/30 |
| Neonatal hypotonia | 30.0% | 9/30 |
| Central hypotonia | 16.7% | 5/30 |
| Seizures | 16.7% | 5/30 |
| Generalized hypotonia | 13.3% | 4/30 |
| Generalized tonic-clonic seizures | 6.7% | 2/30 |
| Infantile axial hypotonia | 6.7% | 2/30 |
| Infantile spasms | 6.7% | 2/30 |
| Spasticity | 6.7% | 2/30 |
| Agitation | 3.3% | 1/30 |
| Atonic seizures | 3.3% | 1/30 |
| Bradykinesia | 3.3% | 1/30 |
| Dysdiadochokinesis | 3.3% | 1/30 |
| Dysmetria | 3.3% | 1/30 |
| Dystonia | 3.3% | 1/30 |
| EEG with centrotemporal focal spike waves | 3.3% | 1/30 |
| Episodic fatigue | 3.3% | 1/30 |
| Episodic fever | 3.3% | 1/30 |
| Febrile seizures | 3.3% | 1/30 |
| Focal seizures | 3.3% | 1/30 |
| Generalized neonatal hypotonia | 3.3% | 1/30 |
| Generalized seizures | 3.3% | 1/30 |
| Hypokinesia | 3.3% | 1/30 |
| Hypsarrhythmia | 3.3% | 1/30 |
| Intention tremor | 3.3% | 1/30 |
| Limb hypertonia | 3.3% | 1/30 |
| Myopathic facies | 3.3% | 1/30 |
| Obsessive-compulsive behavior | 3.3% | 1/30 |
| Optic atrophy | 3.3% | 1/30 |
| Repetitive compulsive behavior | 3.3% | 1/30 |
| Septo-optic dysplasia | 3.3% | 1/30 |
| Sleep disturbance | 3.3% | 1/30 |
| Behavioral problems | 46.7% | 14/30 |
| Autism | 30.0% | 9/30 |
| Attention deficit hyperactivity disorder | 20.0% | 6/30 |
| Repetitive compulsive behavior | 20.0% | 6/30 |
| Aggressive behavior | 10.0% | 3/30 |
| Obsessive-compulsive behavior | 6.7% | 2/30 |
| Emotional lability | 3.3% | 1/30 |
| Head-banging | 3.3% | 1/30 |
| Perseveration | 3.3% | 1/30 |
| Brain abnormality | 50.0% | 12/24 |
| 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 |
| Abnormality of the periventricular white matter | 4.2% | 1/24 |
| Abnormal cortical gyration | 4.2% | 1/24 |
| Agenesis of corpus callosum | 4.2% | 1/24 |
| Cerebral white matter hypoplasia | 4.2% | 1/24 |
| Corticospinal tract hypoplasia | 4.2% | 1/24 |
| Dysplastic corpus callosum | 4.2% | 1/24 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 10/30 |
| Protruding ear | 10.0% | 3/30 |
| Large earlobe | 6.7% | 2/30 |
| Auricular tag | 3.3% | 1/30 |
| Cupped ear | 3.3% | 1/30 |
| Darwin tubercle of helix | 3.3% | 1/30 |
| Hypoplastic helices | 3.3% | 1/30 |
| Long ear | 3.3% | 1/30 |
| Low-set ears | 3.3% | 1/30 |
| Overfolded helix | 3.3% | 1/30 |
| Pointed helix | 3.3% | 1/30 |
| Posteriorly rotated ears | 3.3% | 1/30 |
| Prominent antihelix | 3.3% | 1/30 |
| Abnormality of the eye | 26.7% | 8/30 |
| Epicanthus | 6.7% | 2/30 |
| Small palpebral fissure | 6.7% | 2/30 |
| Upslanted palpebral fissure | 6.7% | 2/30 |
| Downslanted palpebral fissures | 3.3% | 1/30 |
| Large eyes | 3.3% | 1/30 |
| Optic atrophy | 3.3% | 1/30 |
| Abnormality of the nose | 13.3% | 4/30 |
| Anosmia | 3.3% | 1/30 |
| Long nose | 3.3% | 1/30 |
| Narrow nasal ridge | 3.3% | 1/30 |
| Prominent nasal bridge | 3.3% | 1/30 |
| Prominent nasal tip | 3.3% | 1/30 |
| Wide nasal bridge | 3.3% | 1/30 |
| Abnormality of the mouth | 23.3% | 7/30 |
| High palate | 6.7% | 2/30 |
| Thin upper lip vermilion | 6.7% | 2/30 |
| Wide mouth | 6.7% | 2/30 |
| Long hallux | 3.3% | 1/30 |
| Narrow mouth | 3.3% | 1/30 |
| 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 |
| Visual impairment | 50.0% | 15/30 |
| Cortical visual impairment | 40.0% | 12/30 |
| Strabismus | 40.0% | 12/30 |
| Nystagmus | 33.3% | 10/30 |
| Optic disc pallor | 30.0% | 9/30 |
| Hypermetropia | 26.7% | 8/30 |
| Optic atrophy | 23.3% | 7/30 |
| Optic nerve hypoplasia | 23.3% | 7/30 |
| Esotropia | 16.7% | 5/30 |
| Visual field defect | 13.3% | 4/30 |
| Abnormality of eye movement | 10.0% | 3/30 |
| Amblyopia | 10.0% | 3/30 |
| Constriction of peripheral visual field | 6.7% | 2/30 |
| Exotropia | 6.7% | 2/30 |
| Myopia | 6.7% | 2/30 |
| Optic disc hypoplasia | 6.7% | 2/30 |
| Severe visual impairment | 6.7% | 2/30 |
| Abnormality of vision | 3.3% | 1/30 |
| Abnormality of the optic disc | 3.3% | 1/30 |
| Abnormality of refraction | 3.3% | 1/30 |
| Aplasia/Hypoplasia of the macula | 3.3% | 1/30 |
| Astigmatism | 3.3% | 1/30 |
| Coloboma | 3.3% | 1/30 |
| Corneal opacity | 3.3% | 1/30 |
| Keratoconus | 3.3% | 1/30 |
| Keratitis | 3.3% | 1/30 |
| Moderate visual impairment | 3.3% | 1/30 |
| Pallor | 3.3% | 1/30 |
| Retinal atrophy | 3.3% | 1/30 |
| Temporal optic disc pallor | 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 | 16.7% | 5/30 |
| Feeding difficulties in infancy | 10.0% | 3/30 |
| Poor suck | 10.0% | 3/30 |
| Failure to thrive | 6.7% | 2/30 |
| Bowel incontinence | 3.3% | 1/30 |
| Gastroesophageal reflux | 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 |
| Increased laxity of fingers | 3.3% | 1/30 |
| Ligamentous laxity | 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 |