FBXW7
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 68.2% | 15/22 |
| Female | 31.8% | 7/22 |
| Indifferent | 0% | 0/22 |
| Unknown | 0% | 0/22 |
| General | ||
| Birth Length abnormalities | 0% | 0/22 |
| Birth Weight abnormalities | 0% | 0/22 |
| Birth Head circumference abnormalities | 0% | 0/22 |
| Current Height abnormalities | 18.2% | 4/22 |
| > P98 : Tall stature | 18.2% | 4/22 |
| Current Weight abnormalities | 22.7% | 5/22 |
| > P98 : Increased body weight | 22.7% | 5/22 |
| Current Head circumference abnormalities | 31.8% | 7/22 |
| < P3 : Microcephaly | 9.1% | 2/22 |
| > P98 : Macrocephaly | 22.7% | 5/22 |
| Neurology | ||
| Neurological abnormalities | 70.0% | 14/20 |
| Generalized hypotonia | 40.0% | 8/20 |
| Hypotonia | 15.0% | 3/20 |
| Ataxia | 10.0% | 2/20 |
| Seizure | 10.0% | 2/20 |
| Autism | 5.0% | 1/20 |
| Disturbed sensory perception | 5.0% | 1/20 |
| Drooling | 5.0% | 1/20 |
| Facial hypotonia | 5.0% | 1/20 |
| Involuntary movements | 5.0% | 1/20 |
| Language impairment | 5.0% | 1/20 |
| Photophobia | 5.0% | 1/20 |
| Poor fine motor coordination | 5.0% | 1/20 |
| Spasticity | 5.0% | 1/20 |
| Behavioral problems | 83.3% | 10/12 |
| Anxiety | 58.3% | 7/12 |
| Autistic behavior | 33.3% | 4/12 |
| Depression | 33.3% | 4/12 |
| Compulsive behaviors | 8.3% | 1/12 |
| Delayed speech and language development | 8.3% | 1/12 |
| Hair-pulling | 8.3% | 1/12 |
| Impulsivity | 8.3% | 1/12 |
| Sleep disturbance | 8.3% | 1/12 |
| Brain abnormality | 61.5% | 8/13 |
| Chiari malformation | 15.4% | 2/13 |
| Enlarged cisterna magna | 15.4% | 2/13 |
| Macrocephaly | 15.4% | 2/13 |
| Abnormality of lingual tonsil | 7.7% | 1/13 |
| Abnormal corpus callosum morphology | 7.7% | 1/13 |
| Abnormal cerebellar vermis morphology | 7.7% | 1/13 |
| Abnormal brainstem morphology | 7.7% | 1/13 |
| Agenesis of corpus callosum | 7.7% | 1/13 |
| Brain atrophy | 7.7% | 1/13 |
| Cerebral calcification | 7.7% | 1/13 |
| Cerebellar hypoplasia | 7.7% | 1/13 |
| Dilation of Virchow-Robin spaces | 7.7% | 1/13 |
| Enlarged posterior fossa | 7.7% | 1/13 |
| Enlarged cerebellum | 7.7% | 1/13 |
| Extra-axial cerebrospinal fluid accumulation | 7.7% | 1/13 |
| Facial abnormalities | ||
| Abnormality of the ear | 57.1% | 12/21 |
| Abnormality of the ear | 61.9% | 13/21 |
| Acute otitis media | 9.5% | 2/21 |
| obsolete Low-set, posteriorly rotated ears | 9.5% | 2/21 |
| Overfolded helix | 9.5% | 2/21 |
| Preauricular pit | 9.5% | 2/21 |
| Abnormality of the outer ear | 4.8% | 1/21 |
| Low-set ears | 4.8% | 1/21 |
| Microtia | 4.8% | 1/21 |
| Posteriorly rotated ears | 4.8% | 1/21 |
| Prominent superior crus of antihelix | 4.8% | 1/21 |
| Prominent inferior crus of antihelix | 4.8% | 1/21 |
| Thickened helices | 4.8% | 1/21 |
| Underdeveloped superior crus of antihelix | 4.8% | 1/21 |
| Uplifted earlobe | 4.8% | 1/21 |
| Abnormality of the eye | 54.5% | 12/22 |
| Deeply set eye | 22.7% | 5/22 |
| Periorbital fullness | 13.6% | 3/22 |
| Long palpebral fissure | 9.1% | 2/22 |
| obsolete Prominent epicanthal folds | 9.1% | 2/22 |
| Thick eyebrow | 9.1% | 2/22 |
| Abnormal eyelash morphology | 4.5% | 1/22 |
| Almond-shaped palpebral fissure | 4.5% | 1/22 |
| Amblyopia | 4.5% | 1/22 |
| Broad eyebrow | 4.5% | 1/22 |
| Ectropion | 4.5% | 1/22 |
| Esotropia | 4.5% | 1/22 |
| Highly arched eyebrow | 4.5% | 1/22 |
| Hypertelorism | 4.5% | 1/22 |
| Strabismus | 4.5% | 1/22 |
| Synophrys | 4.5% | 1/22 |
| Telecanthus | 4.5% | 1/22 |
| Abnormality of the nose | 38.9% | 7/18 |
| Abnormality of the nose | 44.4% | 8/18 |
| Abnormal nasal septum morphology | 5.6% | 1/18 |
| Abnormal external nose morphology | 5.6% | 1/18 |
| Bulbous nose | 5.6% | 1/18 |
| Hypertelorism | 5.6% | 1/18 |
| Velopharyngeal insufficiency | 5.6% | 1/18 |
| Wide nose | 5.6% | 1/18 |
| Abnormality of the mouth | 81.0% | 17/21 |
| High palate | 23.8% | 5/21 |
| Thin upper lip vermilion | 23.8% | 5/21 |
| Narrow mouth | 19.0% | 4/21 |
| Dental malocclusion | 14.3% | 3/21 |
| Ankyloglossia | 9.5% | 2/21 |
| Cleft palate | 9.5% | 2/21 |
| Smooth philtrum | 9.5% | 2/21 |
| Thin lower lip vermilion | 9.5% | 2/21 |
| Abnormality of the chin | 4.8% | 1/21 |
| Bifid uvula | 4.8% | 1/21 |
| Cleft soft palate | 4.8% | 1/21 |
| Downturned corners of mouth | 4.8% | 1/21 |
| Everted upper lip vermilion | 4.8% | 1/21 |
| Hypernasal speech | 4.8% | 1/21 |
| Laryngomalacia | 4.8% | 1/21 |
| Long philtrum | 4.8% | 1/21 |
| Micrognathia | 4.8% | 1/21 |
| Midface retrusion | 4.8% | 1/21 |
| Narrow palate | 4.8% | 1/21 |
| Thick vermilion border | 4.8% | 1/21 |
| Widely spaced teeth | 4.8% | 1/21 |
| Visual and hearing impairments | ||
| Abnormal hearing | 4.5% | 1/22 |
| Conductive hearing impairment | 4.5% | 1/22 |
| Abnormal vision | 22.7% | 5/22 |
| Hypermetropia | 18.2% | 4/22 |
| Astigmatism | 4.5% | 1/22 |
| Heart | ||
| Abnormality of the heart | 36.4% | 8/22 |
| Bicuspid aortic valve | 13.6% | 3/22 |
| Atrial septal defect | 9.1% | 2/22 |
| Abnormal atrial septum morphology | 4.5% | 1/22 |
| Heart murmur | 4.5% | 1/22 |
| Interrupted aortic arch | 4.5% | 1/22 |
| Left superior vena cava draining to coronary sinus | 4.5% | 1/22 |
| Patent ductus arteriosus | 4.5% | 1/22 |
| Patent foramen ovale | 4.5% | 1/22 |
| Subvalvular aortic stenosis | 4.5% | 1/22 |
| Ventricular septal defect | 4.5% | 1/22 |
| Pulmonary | ||
| Abnormality of the lungs | 36.4% | 8/22 |
| Obstructive sleep apnea | 18.2% | 4/22 |
| Asthma | 4.5% | 1/22 |
| Hypoplasia of the maxilla | 4.5% | 1/22 |
| Pneumonia | 4.5% | 1/22 |
| Upper airway obstruction | 4.5% | 1/22 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 72.7% | 16/22 |
| Constipation | 27.3% | 6/22 |
| Feeding difficulties in infancy | 13.6% | 3/22 |
| Chronic constipation | 9.1% | 2/22 |
| Failure to thrive | 9.1% | 2/22 |
| Feeding difficulties | 9.1% | 2/22 |
| Poor suck | 9.1% | 2/22 |
| Gastroesophageal reflux | 4.5% | 1/22 |
| Intermittent diarrhea | 4.5% | 1/22 |
| Polyphagia | 4.5% | 1/22 |
| Urogenital | ||
| Abnormality of the urogenital system | 31.8% | 7/22 |
| Bilateral cryptorchidism | 13.6% | 3/22 |
| Abnormal preputium morphology | 4.5% | 1/22 |
| Abnormal renal corticomedullary differentiation | 4.5% | 1/22 |
| Aplasia/Hypoplasia of the testes | 4.5% | 1/22 |
| Cryptorchidism | 4.5% | 1/22 |
| Micropenis | 4.5% | 1/22 |
| Multicystic kidney dysplasia | 4.5% | 1/22 |
| Unilateral renal dysplasia | 4.5% | 1/22 |
| Skeleton | ||
| Skeletal abnormalities | 63.6% | 14/22 |
| Broad thumb | 9.1% | 2/22 |
| Joint hypermobility | 9.1% | 2/22 |
| obsolete Joint laxity | 9.1% | 2/22 |
| Pes planus | 9.1% | 2/22 |
| Sprengel anomaly | 9.1% | 2/22 |
| Abnormal finger morphology | 4.5% | 1/22 |
| Abnormal sternum morphology | 4.5% | 1/22 |
| Acetabular dysplasia | 4.5% | 1/22 |
| Achilles tendon contracture | 4.5% | 1/22 |
| Asymmetric growth | 4.5% | 1/22 |
| Clinodactyly of the 2nd toe | 4.5% | 1/22 |
| Clinodactyly of the 4th toe | 4.5% | 1/22 |
| Clinodactyly of the 5th toe | 4.5% | 1/22 |
| Clinodactyly of the 3rd toe | 4.5% | 1/22 |
| Clinodactyly | 4.5% | 1/22 |
| Disproportionate tall stature | 4.5% | 1/22 |
| Genu valgum | 4.5% | 1/22 |
| Hypertonia | 4.5% | 1/22 |
| Metatarsus adductus | 4.5% | 1/22 |
| Mild short stature | 4.5% | 1/22 |
| Muscle stiffness | 4.5% | 1/22 |
| Overlapping toe | 4.5% | 1/22 |
| Pectus excavatum | 4.5% | 1/22 |
| Short finger | 4.5% | 1/22 |
| Single transverse palmar crease | 4.5% | 1/22 |
| Small finger | 4.5% | 1/22 |
| Small toe | 4.5% | 1/22 |
| Splayed toes | 4.5% | 1/22 |
| Tall stature | 4.5% | 1/22 |
| Tapered finger | 4.5% | 1/22 |
| Webbed neck | 4.5% | 1/22 |
| 2-3 toe syndactyly | 4.5% | 1/22 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 45.5% | 10/22 |
| Acne | 13.6% | 3/22 |
| Single transverse palmar crease | 9.1% | 2/22 |
| Cafe-au-lait spot | 4.5% | 1/22 |
| Heat intolerance | 4.5% | 1/22 |
| High anterior hairline | 4.5% | 1/22 |
| Hyperpigmentation of the skin | 4.5% | 1/22 |
| Melanocytic nevus | 4.5% | 1/22 |
| Nevus flammeus | 4.5% | 1/22 |
| Numerous congenital melanocytic nevi | 4.5% | 1/22 |
| Telangiectasia of the skin | 4.5% | 1/22 |
| Umbilical hernia | 4.5% | 1/22 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 4.8% | 1/21 |
| Delayed puberty | 4.8% | 1/21 |
| Abnormality of the metabolic system | 5.3% | 1/19 |
| Hyperammonemia | 5.3% | 1/19 |
| Abnormality of the immune system | 9.1% | 2/22 |
| Bronchitis | 4.5% | 1/22 |
| Edema of the dorsum of hands | 4.5% | 1/22 |
| Otitis media | 4.5% | 1/22 |