FBXW7
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 73.0% | 27/37 |
| Female | 27.0% | 10/37 |
| Indifferent | 0% | 0/37 |
| Unknown | 0% | 0/37 |
| General | ||
| Birth Length abnormalities | 2.7% | 1/37 |
| > P98 : Birth length greater than 97th percentile | 2.7% | 1/37 |
| Birth Weight abnormalities | 5.4% | 2/37 |
| > P98 : Large for gestational age | 2.7% | 1/37 |
| < P3 : Small for gestational age | 2.7% | 1/37 |
| Birth Head circumference abnormalities | 2.7% | 1/37 |
| > P98 : Macrocephaly at birth | 2.7% | 1/37 |
| Current Height abnormalities | 16.2% | 6/37 |
| > P98 : Tall stature | 10.8% | 4/37 |
| < P3 : Short stature | 5.4% | 2/37 |
| Current Weight abnormalities | 16.2% | 6/37 |
| > P98 : Increased body weight | 13.5% | 5/37 |
| < P3 : Decreased body weight | 2.7% | 1/37 |
| Current Head circumference abnormalities | 37.8% | 14/37 |
| < P3 : Microcephaly | 10.8% | 4/37 |
| > P98 : Macrocephaly | 27.0% | 10/37 |
| Neurology | ||
| Neurological abnormalities | 80.0% | 28/35 |
| Generalized hypotonia | 45.7% | 16/35 |
| Hypotonia | 14.3% | 5/35 |
| Seizure | 11.4% | 4/35 |
| Ataxia | 5.7% | 2/35 |
| Broad-based gait | 5.7% | 2/35 |
| Absent speech | 2.9% | 1/35 |
| Atonic seizure | 2.9% | 1/35 |
| Autism | 2.9% | 1/35 |
| Disturbed sensory perception | 2.9% | 1/35 |
| Drooling | 2.9% | 1/35 |
| Facial hypotonia | 2.9% | 1/35 |
| Failure to thrive | 2.9% | 1/35 |
| Focal-onset seizure | 2.9% | 1/35 |
| Generalized myoclonic seizure | 2.9% | 1/35 |
| Involuntary movements | 2.9% | 1/35 |
| Language impairment | 2.9% | 1/35 |
| obsolete Poor coordination | 2.9% | 1/35 |
| Photophobia | 2.9% | 1/35 |
| Poor fine motor coordination | 2.9% | 1/35 |
| Spasticity | 2.9% | 1/35 |
| Typical absence seizure | 2.9% | 1/35 |
| Unsteady gait | 2.9% | 1/35 |
| Behavioral problems | 81.3% | 13/16 |
| Anxiety | 43.8% | 7/16 |
| Autistic behavior | 25.0% | 4/16 |
| Depression | 25.0% | 4/16 |
| Compulsive behaviors | 6.3% | 1/16 |
| Delayed speech and language development | 6.3% | 1/16 |
| Fatigue | 6.3% | 1/16 |
| Feeding difficulties in infancy | 6.3% | 1/16 |
| Hair-pulling | 6.3% | 1/16 |
| Impulsivity | 6.3% | 1/16 |
| Sleep disturbance | 6.3% | 1/16 |
| Brain abnormality | 72.7% | 16/22 |
| Abnormal corpus callosum morphology | 27.3% | 6/22 |
| Chiari malformation | 13.6% | 3/22 |
| Enlarged cerebellum | 13.6% | 3/22 |
| Extra-axial cerebrospinal fluid accumulation | 13.6% | 3/22 |
| Macrocephaly | 13.6% | 3/22 |
| Abnormal cerebellar vermis morphology | 9.1% | 2/22 |
| Enlarged cisterna magna | 9.1% | 2/22 |
| Polymicrogyria | 9.1% | 2/22 |
| Abnormal cerebral white matter morphology | 4.5% | 1/22 |
| Abnormal brainstem morphology | 4.5% | 1/22 |
| Abnormality of lingual tonsil | 4.5% | 1/22 |
| Agenesis of corpus callosum | 4.5% | 1/22 |
| Brain atrophy | 4.5% | 1/22 |
| Cerebellar hypoplasia | 4.5% | 1/22 |
| Cerebral calcification | 4.5% | 1/22 |
| Delayed CNS myelination | 4.5% | 1/22 |
| Delayed myelination | 4.5% | 1/22 |
| Dilation of Virchow-Robin spaces | 4.5% | 1/22 |
| Enlarged brainstem | 4.5% | 1/22 |
| Enlarged posterior fossa | 4.5% | 1/22 |
| Small posterior fossa | 4.5% | 1/22 |
| Ventriculomegaly | 4.5% | 1/22 |
| Facial abnormalities | ||
| Abnormality of the ear | 57.6% | 19/33 |
| Abnormality of the ear | 60.6% | 20/33 |
| Overfolded helix | 9.1% | 3/33 |
| Acute otitis media | 6.1% | 2/33 |
| obsolete Low-set, posteriorly rotated ears | 6.1% | 2/33 |
| Posteriorly rotated ears | 6.1% | 2/33 |
| Preauricular pit | 6.1% | 2/33 |
| Abnormality of the outer ear | 3.0% | 1/33 |
| Anteverted ears | 3.0% | 1/33 |
| Low-set ears | 3.0% | 1/33 |
| Microtia | 3.0% | 1/33 |
| Otitis media | 3.0% | 1/33 |
| Prominent superior crus of antihelix | 3.0% | 1/33 |
| Prominent inferior crus of antihelix | 3.0% | 1/33 |
| Thickened helices | 3.0% | 1/33 |
| Thin ear helix | 3.0% | 1/33 |
| Underdeveloped superior crus of antihelix | 3.0% | 1/33 |
| Uplifted earlobe | 3.0% | 1/33 |
| Abnormality of the eye | 58.3% | 21/36 |
| Deeply set eye | 22.2% | 8/36 |
| Periorbital fullness | 13.9% | 5/36 |
| Strabismus | 11.1% | 4/36 |
| Long palpebral fissure | 8.3% | 3/36 |
| Synophrys | 8.3% | 3/36 |
| Epicanthus | 5.6% | 2/36 |
| Esotropia | 5.6% | 2/36 |
| Highly arched eyebrow | 5.6% | 2/36 |
| obsolete Prominent epicanthal folds | 5.6% | 2/36 |
| Thick eyebrow | 5.6% | 2/36 |
| Abnormal eyelash morphology | 2.8% | 1/36 |
| Almond-shaped palpebral fissure | 2.8% | 1/36 |
| Amblyopia | 2.8% | 1/36 |
| Bilateral ptosis | 2.8% | 1/36 |
| Blue sclerae | 2.8% | 1/36 |
| Broad eyebrow | 2.8% | 1/36 |
| Downslanted palpebral fissures | 2.8% | 1/36 |
| Ectropion | 2.8% | 1/36 |
| Hypertelorism | 2.8% | 1/36 |
| Long eyelashes | 2.8% | 1/36 |
| Nasolacrimal duct obstruction | 2.8% | 1/36 |
| Telecanthus | 2.8% | 1/36 |
| Abnormality of the nose | 45.2% | 14/31 |
| Abnormality of the nose | 48.4% | 15/31 |
| Depressed nasal bridge | 9.7% | 3/31 |
| Bulbous nose | 6.5% | 2/31 |
| Wide nasal bridge | 6.5% | 2/31 |
| Abnormal nasal septum morphology | 3.2% | 1/31 |
| Abnormal external nose morphology | 3.2% | 1/31 |
| Broad nasal tip | 3.2% | 1/31 |
| Hypertelorism | 3.2% | 1/31 |
| Prominent nasal bridge | 3.2% | 1/31 |
| Short nose | 3.2% | 1/31 |
| Velopharyngeal insufficiency | 3.2% | 1/31 |
| Wide nose | 3.2% | 1/31 |
| Abnormality of the mouth | 77.8% | 28/36 |
| High palate | 19.4% | 7/36 |
| Thin upper lip vermilion | 19.4% | 7/36 |
| Narrow mouth | 11.1% | 4/36 |
| Ankyloglossia | 8.3% | 3/36 |
| Dental malocclusion | 8.3% | 3/36 |
| Downturned corners of mouth | 8.3% | 3/36 |
| Abnormality of the philtrum | 5.6% | 2/36 |
| Carious teeth | 5.6% | 2/36 |
| Cleft palate | 5.6% | 2/36 |
| Narrow palate | 5.6% | 2/36 |
| Smooth philtrum | 5.6% | 2/36 |
| Thin lower lip vermilion | 5.6% | 2/36 |
| Abnormality of dental eruption | 2.8% | 1/36 |
| Abnormality of the chin | 2.8% | 1/36 |
| Anterior open-bite malocclusion | 2.8% | 1/36 |
| Bifid uvula | 2.8% | 1/36 |
| Cleft soft palate | 2.8% | 1/36 |
| Curved linear dimple below the lower lip | 2.8% | 1/36 |
| Delayed eruption of teeth | 2.8% | 1/36 |
| Everted upper lip vermilion | 2.8% | 1/36 |
| Hypernasal speech | 2.8% | 1/36 |
| Laryngeal cleft | 2.8% | 1/36 |
| Laryngomalacia | 2.8% | 1/36 |
| Long philtrum | 2.8% | 1/36 |
| Micrognathia | 2.8% | 1/36 |
| Midface retrusion | 2.8% | 1/36 |
| Short uvula | 2.8% | 1/36 |
| Short chin | 2.8% | 1/36 |
| Tented upper lip vermilion | 2.8% | 1/36 |
| Thick vermilion border | 2.8% | 1/36 |
| Widely spaced teeth | 2.8% | 1/36 |
| Visual and hearing impairments | ||
| Abnormal hearing | 8.3% | 3/36 |
| Conductive hearing impairment | 5.6% | 2/36 |
| Mixed hearing impairment | 2.8% | 1/36 |
| Sensorineural hearing impairment | 2.8% | 1/36 |
| Abnormal vision | 25.7% | 9/35 |
| Hypermetropia | 17.1% | 6/35 |
| Amblyopia | 2.9% | 1/35 |
| Astigmatism | 2.9% | 1/35 |
| Cerebral visual impairment | 2.9% | 1/35 |
| Myopia | 2.9% | 1/35 |
| Heart | ||
| Abnormality of the heart | 37.8% | 14/37 |
| Atrial septal defect | 8.1% | 3/37 |
| Bicuspid aortic valve | 8.1% | 3/37 |
| Ventricular septal defect | 8.1% | 3/37 |
| Patent ductus arteriosus | 5.4% | 2/37 |
| Patent foramen ovale | 5.4% | 2/37 |
| Abnormal atrial septum morphology | 2.7% | 1/37 |
| Heart murmur | 2.7% | 1/37 |
| Interrupted aortic arch | 2.7% | 1/37 |
| Left superior vena cava draining to coronary sinus | 2.7% | 1/37 |
| Mesocardia | 2.7% | 1/37 |
| Patent ductus arteriosus after birth at term | 2.7% | 1/37 |
| Perimembranous ventricular septal defect | 2.7% | 1/37 |
| Secundum atrial septal defect | 2.7% | 1/37 |
| Subvalvular aortic stenosis | 2.7% | 1/37 |
| Pulmonary | ||
| Abnormality of the lungs | 32.4% | 12/37 |
| Obstructive sleep apnea | 10.8% | 4/37 |
| Asthma | 5.4% | 2/37 |
| Pneumonia | 5.4% | 2/37 |
| Aspiration pneumonia | 2.7% | 1/37 |
| Hypoplasia of the maxilla | 2.7% | 1/37 |
| Immotile cilia | 2.7% | 1/37 |
| Recurrent pneumonia | 2.7% | 1/37 |
| Recurrent upper respiratory tract infections | 2.7% | 1/37 |
| Upper airway obstruction | 2.7% | 1/37 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 73.0% | 27/37 |
| Constipation | 32.4% | 12/37 |
| Feeding difficulties | 16.2% | 6/37 |
| Gastroesophageal reflux | 16.2% | 6/37 |
| Chronic constipation | 10.8% | 4/37 |
| Feeding difficulties in infancy | 8.1% | 3/37 |
| Poor suck | 8.1% | 3/37 |
| Failure to thrive | 5.4% | 2/37 |
| Diarrhea | 2.7% | 1/37 |
| Dysphagia | 2.7% | 1/37 |
| Gastrointestinal inflammation | 2.7% | 1/37 |
| Gastrostomy tube feeding in infancy | 2.7% | 1/37 |
| Intermittent diarrhea | 2.7% | 1/37 |
| Oral motor hypotonia | 2.7% | 1/37 |
| Polyphagia | 2.7% | 1/37 |
| Velopharyngeal insufficiency | 2.7% | 1/37 |
| Urogenital | ||
| Abnormality of the urogenital system | 29.7% | 11/37 |
| Bilateral cryptorchidism | 8.1% | 3/37 |
| Cryptorchidism | 5.4% | 2/37 |
| Abnormal preputium morphology | 2.7% | 1/37 |
| Abnormal renal corticomedullary differentiation | 2.7% | 1/37 |
| Aplasia/Hypoplasia of the testes | 2.7% | 1/37 |
| Inguinal hernia | 2.7% | 1/37 |
| Micropenis | 2.7% | 1/37 |
| Multicystic kidney dysplasia | 2.7% | 1/37 |
| Nocturia | 2.7% | 1/37 |
| Unilateral renal dysplasia | 2.7% | 1/37 |
| Urinary incontinence | 2.7% | 1/37 |
| Skeleton | ||
| Skeletal abnormalities | 64.9% | 24/37 |
| Joint hypermobility | 8.1% | 3/37 |
| obsolete Joint laxity | 8.1% | 3/37 |
| Pes planus | 8.1% | 3/37 |
| Tapered finger | 8.1% | 3/37 |
| Broad thumb | 5.4% | 2/37 |
| Narrow chest | 5.4% | 2/37 |
| Single transverse palmar crease | 5.4% | 2/37 |
| Sprengel anomaly | 5.4% | 2/37 |
| Abnormal buccal fat pad morphology | 2.7% | 1/37 |
| Abnormal finger morphology | 2.7% | 1/37 |
| Abnormal sternum morphology | 2.7% | 1/37 |
| Acetabular dysplasia | 2.7% | 1/37 |
| Achilles tendon contracture | 2.7% | 1/37 |
| Asymmetric growth | 2.7% | 1/37 |
| Brachydactyly | 2.7% | 1/37 |
| Broad foot | 2.7% | 1/37 |
| Calcaneovalgus deformity | 2.7% | 1/37 |
| Clinodactyly of the 4th toe | 2.7% | 1/37 |
| Clinodactyly of the 3rd toe | 2.7% | 1/37 |
| Clinodactyly of the 5th toe | 2.7% | 1/37 |
| Clinodactyly of the 2nd toe | 2.7% | 1/37 |
| Clinodactyly | 2.7% | 1/37 |
| Disproportionate tall stature | 2.7% | 1/37 |
| Genu valgum | 2.7% | 1/37 |
| Hemifacial hypertrophy | 2.7% | 1/37 |
| Hemihypotrophy of lower limb | 2.7% | 1/37 |
| Hip dislocation | 2.7% | 1/37 |
| Hypermobility of interphalangeal joints | 2.7% | 1/37 |
| Hypertonia | 2.7% | 1/37 |
| Hypoplasia of the phalanges of the toes | 2.7% | 1/37 |
| Increased muscle fatiguability | 2.7% | 1/37 |
| Interphalangeal joint contracture of finger | 2.7% | 1/37 |
| Kyphosis | 2.7% | 1/37 |
| Metatarsus adductus | 2.7% | 1/37 |
| Mild short stature | 2.7% | 1/37 |
| Muscle stiffness | 2.7% | 1/37 |
| Overlapping toe | 2.7% | 1/37 |
| Pectus carinatum | 2.7% | 1/37 |
| Pectus excavatum | 2.7% | 1/37 |
| Prominent calcaneus | 2.7% | 1/37 |
| Scoliosis | 2.7% | 1/37 |
| Short foot | 2.7% | 1/37 |
| Short finger | 2.7% | 1/37 |
| Small finger | 2.7% | 1/37 |
| Small toe | 2.7% | 1/37 |
| Splayed toes | 2.7% | 1/37 |
| Tall stature | 2.7% | 1/37 |
| Webbed neck | 2.7% | 1/37 |
| 2-3 toe syndactyly | 2.7% | 1/37 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 45.9% | 17/37 |
| Abnormality of the skin | 48.6% | 18/37 |
| Single transverse palmar crease | 13.5% | 5/37 |
| Acne | 8.1% | 3/37 |
| Prominent fingertip pads | 5.4% | 2/37 |
| Cafe-au-lait spot | 2.7% | 1/37 |
| Capillary hemangioma | 2.7% | 1/37 |
| Eczematoid dermatitis | 2.7% | 1/37 |
| Heat intolerance | 2.7% | 1/37 |
| High anterior hairline | 2.7% | 1/37 |
| Hyperpigmentation of the skin | 2.7% | 1/37 |
| Hypertrichosis | 2.7% | 1/37 |
| Hypopigmentation of the skin | 2.7% | 1/37 |
| Melanocytic nevus | 2.7% | 1/37 |
| Nevus | 2.7% | 1/37 |
| Nevus flammeus | 2.7% | 1/37 |
| Numerous congenital melanocytic nevi | 2.7% | 1/37 |
| Skin rash | 2.7% | 1/37 |
| Telangiectasia of the skin | 2.7% | 1/37 |
| Umbilical hernia | 2.7% | 1/37 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 8.6% | 3/35 |
| Delayed puberty | 2.9% | 1/35 |
| Hypothyroidism | 2.9% | 1/35 |
| Neonatal hypoglycemia | 2.9% | 1/35 |
| Abnormality of the metabolic system | 9.7% | 3/31 |
| Decreased circulating carnitine concentration | 3.2% | 1/31 |
| Decreased circulating vitamin D concentration | 3.2% | 1/31 |
| Hyperammonemia | 3.2% | 1/31 |
| Abnormality of the immune system | 18.9% | 7/37 |
| Abnormal thymus morphology | 2.7% | 1/37 |
| Bronchitis | 2.7% | 1/37 |
| Decreased total neutrophil count | 2.7% | 1/37 |
| Decreased circulating IgG concentration | 2.7% | 1/37 |
| Decreased circulating immunoglobulin concentration | 2.7% | 1/37 |
| Decreased circulating IgA concentration | 2.7% | 1/37 |
| Edema of the dorsum of hands | 2.7% | 1/37 |
| Otitis media | 2.7% | 1/37 |
| Recurrent infections | 2.7% | 1/37 |
| Recurrent fever | 2.7% | 1/37 |