FBXO11
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 68.6% | 35/51 |
| Female | 31.4% | 16/51 |
| Indifferent | 0% | 0/51 |
| Unknown | 0% | 0/51 |
| General | ||
| Birth Length abnormalities | 13.5% | 5/37 |
| < P3 : Birth length less than 3rd percentile | 13.5% | 5/37 |
| Birth Weight abnormalities | 21.6% | 8/37 |
| > P98 : Large for gestational age | 2.7% | 1/37 |
| < P3 : Small for gestational age | 18.9% | 7/37 |
| Birth Head circumference abnormalities | 16.2% | 6/37 |
| < P3 : Congenital microcephaly | 16.2% | 6/37 |
| Current Height abnormalities | 13.7% | 7/51 |
| > P98 : Tall stature | 5.9% | 3/51 |
| < P3 : Short stature | 7.8% | 4/51 |
| Current Weight abnormalities | 37.3% | 19/51 |
| > P98 : Increased body weight | 25.5% | 13/51 |
| < P3 : Decreased body weight | 11.8% | 6/51 |
| Current Head circumference abnormalities | 28.6% | 14/49 |
| < P3 : Microcephaly | 20.4% | 10/49 |
| > P98 : Macrocephaly | 8.2% | 4/49 |
| Neurology | ||
| Neurological abnormalities | 94.0% | 47/50 |
| Global developmental delay | 88.0% | 44/50 |
| Generalized hypotonia | 46.0% | 23/50 |
| Seizures | 10.0% | 5/50 |
| Generalized tonic-clonic seizures | 8.0% | 4/50 |
| Absent speech | 4.0% | 2/50 |
| Developmental regression | 4.0% | 2/50 |
| Gait disturbance | 4.0% | 2/50 |
| Infantile axial hypotonia | 4.0% | 2/50 |
| Infantile muscular hypotonia | 4.0% | 2/50 |
| Intellectual disability, borderline | 4.0% | 2/50 |
| Severe muscular hypotonia | 4.0% | 2/50 |
| Speech apraxia | 4.0% | 2/50 |
| Abnormality of the cerebellum | 2.0% | 1/50 |
| Abnormal emotion/affect behavior | 2.0% | 1/50 |
| Absence seizures | 2.0% | 1/50 |
| Arachnoid cyst | 2.0% | 1/50 |
| Atonic seizures | 2.0% | 1/50 |
| Facial hypotonia | 2.0% | 1/50 |
| Focal seizures | 2.0% | 1/50 |
| Focal seizures with impairment of consciousness or awareness | 2.0% | 1/50 |
| Generalized myoclonic seizures | 2.0% | 1/50 |
| Horizontal nystagmus | 2.0% | 1/50 |
| Impaired pain sensation | 2.0% | 1/50 |
| Intellectual disability, profound | 2.0% | 1/50 |
| Myoclonic atonic seizures | 2.0% | 1/50 |
| Photomyoclonic seizures | 2.0% | 1/50 |
| Poor hand-eye coordination | 2.0% | 1/50 |
| Poor motor coordination | 2.0% | 1/50 |
| Scanning speech | 2.0% | 1/50 |
| Torticollis | 2.0% | 1/50 |
| Behavioral problems | 81.6% | 40/49 |
| Sleep disturbance | 26.5% | 13/49 |
| Anxiety | 20.4% | 10/49 |
| Autism | 20.4% | 10/49 |
| Impaired social interactions | 20.4% | 10/49 |
| Abnormal emotion/affect behavior | 12.2% | 6/49 |
| Attention deficit hyperactivity disorder | 12.2% | 6/49 |
| Aggressive behavior | 10.2% | 5/49 |
| Autistic behavior | 10.2% | 5/49 |
| Hyperactivity | 10.2% | 5/49 |
| Short attention span | 10.2% | 5/49 |
| Global developmental delay | 6.1% | 3/49 |
| Polyphagia | 6.1% | 3/49 |
| Personality disorder | 4.1% | 2/49 |
| Poor eye contact | 4.1% | 2/49 |
| Self-injurious behavior | 4.1% | 2/49 |
| Stereotypic behavior | 4.1% | 2/49 |
| Abnormal fear/anxiety-related behavior | 2.0% | 1/49 |
| Abnormal aggressive, impulsive or violent behavior | 2.0% | 1/49 |
| Abnormal eating behavior | 2.0% | 1/49 |
| Head-banging | 2.0% | 1/49 |
| Inappropriate behavior | 2.0% | 1/49 |
| Motor tics | 2.0% | 1/49 |
| Oppositional defiant disorder | 2.0% | 1/49 |
| Recurrent hand flapping | 2.0% | 1/49 |
| Skin-picking | 2.0% | 1/49 |
| Sleep-wake cycle disturbance | 2.0% | 1/49 |
| Stereotypical hand wringing | 2.0% | 1/49 |
| Brain abnormality | 37.5% | 15/40 |
| Choroid plexus cyst | 5.0% | 2/40 |
| Dilation of lateral ventricles | 5.0% | 2/40 |
| Syringomyelia | 5.0% | 2/40 |
| Ventriculomegaly | 5.0% | 2/40 |
| Abnormality of the corpus callosum | 2.5% | 1/40 |
| Abnormal cortical gyration | 2.5% | 1/40 |
| Abnormality of the arachnoid mater | 2.5% | 1/40 |
| Abnormality of the cerebral cortex | 2.5% | 1/40 |
| Anterior hypopituitarism | 2.5% | 1/40 |
| Aplasia/Hypoplasia of the brainstem | 2.5% | 1/40 |
| Arnold-Chiari malformation | 2.5% | 1/40 |
| Asymmetric ventricles | 2.5% | 1/40 |
| Cerebral white matter atrophy | 2.5% | 1/40 |
| Cortical dysplasia | 2.5% | 1/40 |
| Enlarged cerebellum | 2.5% | 1/40 |
| Hydrocephalus | 2.5% | 1/40 |
| Limbic malformations | 2.5% | 1/40 |
| Morphological abnormality of the central nervous system | 2.5% | 1/40 |
| Periventricular cysts | 2.5% | 1/40 |
| Facial abnormalities | ||
| Abnormality of the ear | 43.8% | 21/48 |
| Macrotia | 22.9% | 11/48 |
| Low-set ears | 12.5% | 6/48 |
| Protruding ear | 6.3% | 3/48 |
| Posteriorly rotated ears | 4.2% | 2/48 |
| Uplifted earlobe | 4.2% | 2/48 |
| Abnormality of the pinna | 2.1% | 1/48 |
| Abnormality of the antihelix | 2.1% | 1/48 |
| Absent earlobe | 2.1% | 1/48 |
| Anterior creases of earlobe | 2.1% | 1/48 |
| Anteverted ears | 2.1% | 1/48 |
| Attached earlobe | 2.1% | 1/48 |
| Cupped ear | 2.1% | 1/48 |
| Horizontal crus of helix | 2.1% | 1/48 |
| Low-set, posteriorly rotated ears | 2.1% | 1/48 |
| Microtia | 2.1% | 1/48 |
| Prominent ear helix | 2.1% | 1/48 |
| Prominent tragus | 2.1% | 1/48 |
| Abnormality of the eye | 81.6% | 40/49 |
| Long eyelashes | 22.4% | 11/49 |
| Long palpebral fissure | 18.4% | 9/49 |
| Epicanthus | 16.3% | 8/49 |
| Upslanted palpebral fissure | 14.3% | 7/49 |
| Highly arched eyebrow | 12.2% | 6/49 |
| Thick eyebrow | 12.2% | 6/49 |
| Downslanted palpebral fissures | 10.2% | 5/49 |
| Hypertelorism | 10.2% | 5/49 |
| Deeply set eye | 8.2% | 4/49 |
| Abnormality of the eyelid | 6.1% | 3/49 |
| Hypotelorism | 6.1% | 3/49 |
| Small palpebral fissure | 6.1% | 3/49 |
| Bilateral ptosis | 4.1% | 2/49 |
| Broad eyebrow | 4.1% | 2/49 |
| Laterally curved eyebrow | 4.1% | 2/49 |
| Proptosis | 4.1% | 2/49 |
| Sparse eyebrow | 4.1% | 2/49 |
| Abnormal eye morphology | 2.0% | 1/49 |
| Abnormality of retinal pigmentation | 2.0% | 1/49 |
| Accessory eyelid | 2.0% | 1/49 |
| Blepharochalasis | 2.0% | 1/49 |
| Blue irides | 2.0% | 1/49 |
| Epicanthus inversus | 2.0% | 1/49 |
| Horizontal eyebrow | 2.0% | 1/49 |
| Large eyes | 2.0% | 1/49 |
| Medial flaring of the eyebrow | 2.0% | 1/49 |
| Nasolacrimal duct obstruction | 2.0% | 1/49 |
| Periorbital fullness | 2.0% | 1/49 |
| Periorbital edema | 2.0% | 1/49 |
| Prominent eyelashes | 2.0% | 1/49 |
| Short palpebral fissure | 2.0% | 1/49 |
| Synophrys | 2.0% | 1/49 |
| Unilateral ptosis | 2.0% | 1/49 |
| Abnormality of the nose | 43.8% | 21/48 |
| Wide nasal bridge | 16.7% | 8/48 |
| Bulbous nose | 12.5% | 6/48 |
| Underdeveloped nasal alae | 8.3% | 4/48 |
| Anteverted nares | 6.3% | 3/48 |
| Depressed nasal bridge | 4.2% | 2/48 |
| Low hanging columella | 4.2% | 2/48 |
| Prominent nasal bridge | 4.2% | 2/48 |
| Abnormality of the nasal dorsum | 2.1% | 1/48 |
| Absent crus of helix | 2.1% | 1/48 |
| Broad nasal tip | 2.1% | 1/48 |
| Depressed nasal ridge | 2.1% | 1/48 |
| Flared nostrils | 2.1% | 1/48 |
| Large beaked nose | 2.1% | 1/48 |
| Long nose | 2.1% | 1/48 |
| Pear-shaped nose | 2.1% | 1/48 |
| Prominent nose | 2.1% | 1/48 |
| Prominent nasal tip | 2.1% | 1/48 |
| Short nose | 2.1% | 1/48 |
| Wide nose | 2.1% | 1/48 |
| Abnormality of the mouth | 70.2% | 33/47 |
| Thin upper lip vermilion | 40.4% | 19/47 |
| Exaggerated cupid's bow | 21.3% | 10/47 |
| Smooth philtrum | 17.0% | 8/47 |
| Broad philtrum | 8.5% | 4/47 |
| Thick lower lip vermilion | 8.5% | 4/47 |
| Everted lower lip vermilion | 6.4% | 3/47 |
| Long philtrum | 6.4% | 3/47 |
| Narrow mouth | 6.4% | 3/47 |
| Short philtrum | 6.4% | 3/47 |
| Tented upper lip vermilion | 6.4% | 3/47 |
| Thick upper lip vermilion | 6.4% | 3/47 |
| Bifid uvula | 4.3% | 2/47 |
| Incisor macrodontia | 4.3% | 2/47 |
| Microretrognathia | 4.3% | 2/47 |
| Micrognathia | 4.3% | 2/47 |
| Wide mouth | 4.3% | 2/47 |
| Alveolar ridge cleft | 2.1% | 1/47 |
| Ankyloglossia | 2.1% | 1/47 |
| Bilateral cleft lip | 2.1% | 1/47 |
| Cleft palate | 2.1% | 1/47 |
| Delayed eruption of teeth | 2.1% | 1/47 |
| Dental malocclusion | 2.1% | 1/47 |
| Downturned corners of mouth | 2.1% | 1/47 |
| High palate | 2.1% | 1/47 |
| Misalignment of incisors | 2.1% | 1/47 |
| Narrow palate | 2.1% | 1/47 |
| Short uvula | 2.1% | 1/47 |
| Submucous cleft soft palate | 2.1% | 1/47 |
| Supernumerary maxillary incisor | 2.1% | 1/47 |
| Thin lower lip vermilion | 2.1% | 1/47 |
| Visual and hearing impairments | ||
| Abnormal hearing | 6.7% | 3/45 |
| Bilateral sensorineural hearing impairment | 2.2% | 1/45 |
| Low-frequency hearing loss | 2.2% | 1/45 |
| Progressive conductive hearing impairment | 2.2% | 1/45 |
| Abnormal vision | 50.0% | 23/46 |
| Strabismus | 28.3% | 13/46 |
| Hypermetropia | 8.7% | 4/46 |
| Alternating esotropia | 4.3% | 2/46 |
| Amblyopia | 4.3% | 2/46 |
| Optic nerve hypoplasia | 4.3% | 2/46 |
| Abnormality of retinal pigmentation | 2.2% | 1/46 |
| Abnormality of eye movement | 2.2% | 1/46 |
| Abnormal conjugate eye movement | 2.2% | 1/46 |
| Congenital cataract | 2.2% | 1/46 |
| Cortical visual impairment | 2.2% | 1/46 |
| Deeply set eye | 2.2% | 1/46 |
| Duane anomaly | 2.2% | 1/46 |
| Esotropia | 2.2% | 1/46 |
| Microphthalmia | 2.2% | 1/46 |
| Nuclear cataract | 2.2% | 1/46 |
| Nystagmus | 2.2% | 1/46 |
| Persistent pupillary membrane | 2.2% | 1/46 |
| Retinal detachment | 2.2% | 1/46 |
| Severe Myopia | 2.2% | 1/46 |
| Shallow anterior chamber | 2.2% | 1/46 |
| Heart | ||
| Abnormality of the heart | 9.1% | 4/44 |
| Aortic aneurysm | 2.3% | 1/44 |
| Atria septal defect | 2.3% | 1/44 |
| Cardiomyopathy | 2.3% | 1/44 |
| Left ventricular hypertrophy | 2.3% | 1/44 |
| Secundum atrial septal defect | 2.3% | 1/44 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 47.8% | 22/46 |
| Constipation | 21.7% | 10/46 |
| Feeding difficulties | 17.4% | 8/46 |
| Gastroesophageal reflux | 13.0% | 6/46 |
| Vomiting | 6.5% | 3/46 |
| Episodic vomiting | 4.3% | 2/46 |
| Nasogastric tube feeding in infancy | 4.3% | 2/46 |
| Esophagitis | 2.2% | 1/46 |
| Feeding difficulties in infancy | 2.2% | 1/46 |
| Gastrostomy tube feeding in infancy | 2.2% | 1/46 |
| Polyphagia | 2.2% | 1/46 |
| Urogenital | ||
| Abnormality of the urogenital system | 15.2% | 7/46 |
| Cryptorchidism | 4.3% | 2/46 |
| Hydronephrosis | 4.3% | 2/46 |
| Coronal hypospadias | 2.2% | 1/46 |
| Dilatation of the renal pelvis | 2.2% | 1/46 |
| Enuresis | 2.2% | 1/46 |
| Inguinal hernia | 2.2% | 1/46 |
| Macroorchidism | 2.2% | 1/46 |
| Polyhydramnios | 2.2% | 1/46 |
| Unilateral cryptorchidism | 2.2% | 1/46 |
| Urinary retention | 2.2% | 1/46 |
| Skeleton | ||
| Skeletal abnormalities | 71.7% | 33/46 |
| Tapered finger | 15.2% | 7/46 |
| Brachydactyly syndrome | 13.0% | 6/46 |
| Clinodactyly of the 5th finger | 13.0% | 6/46 |
| Plagiocephaly | 13.0% | 6/46 |
| Sandal gap | 13.0% | 6/46 |
| Pes planus | 10.9% | 5/46 |
| Brachycephaly | 8.7% | 4/46 |
| Increased laxity of fingers | 8.7% | 4/46 |
| Joint laxity | 8.7% | 4/46 |
| Broad foot | 6.5% | 3/46 |
| Broad hallux | 6.5% | 3/46 |
| Hyperextensibility at elbow | 6.5% | 3/46 |
| Short palm | 6.5% | 3/46 |
| Small hand | 6.5% | 3/46 |
| Clinodactyly | 4.3% | 2/46 |
| Excessive femoral anteversion | 4.3% | 2/46 |
| Genu valgum | 4.3% | 2/46 |
| Joint hypermobility | 4.3% | 2/46 |
| Osteopenia | 4.3% | 2/46 |
| Pectus excavatum of inferior sternum | 4.3% | 2/46 |
| Positional foot deformity | 4.3% | 2/46 |
| Reduced bone mineral density | 4.3% | 2/46 |
| Scoliosis | 4.3% | 2/46 |
| Short foot | 4.3% | 2/46 |
| Slender long bone | 4.3% | 2/46 |
| Tibial torsion | 4.3% | 2/46 |
| Abnormality of the anterior fontanelle | 2.2% | 1/46 |
| Abnormality of epiphysis morphology | 2.2% | 1/46 |
| Abnormality of the metopic suture | 2.2% | 1/46 |
| Abnormality of the thorax | 2.2% | 1/46 |
| Abnormality of calvarial morphology | 2.2% | 1/46 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 2.2% | 1/46 |
| Aplasia/Hypoplasia of the mandible | 2.2% | 1/46 |
| Aplasia/Hypoplasia of the 3rd toe | 2.2% | 1/46 |
| Arachnodactyly | 2.2% | 1/46 |
| Bilateral coxa valga | 2.2% | 1/46 |
| Broad finger | 2.2% | 1/46 |
| Broad thumb | 2.2% | 1/46 |
| Broad distal hallux | 2.2% | 1/46 |
| Broad distal phalanges of all fingers | 2.2% | 1/46 |
| Clinodactyly of the 3rd toe | 2.2% | 1/46 |
| Clinodactyly of the 5th toe | 2.2% | 1/46 |
| Clinodactyly of the 4th toe | 2.2% | 1/46 |
| Clinodactyly of the 2nd toe | 2.2% | 1/46 |
| Cone-shaped epiphyses of the phalanges of the hand | 2.2% | 1/46 |
| Cone-shaped epiphysis of the distal phalanx of the 5th finger | 2.2% | 1/46 |
| Coxa vara | 2.2% | 1/46 |
| Craniosynostosis | 2.2% | 1/46 |
| Cubitus valgus | 2.2% | 1/46 |
| Deep plantar creases | 2.2% | 1/46 |
| Delayed skeletal maturation | 2.2% | 1/46 |
| Enlarged epiphyses of the hallux | 2.2% | 1/46 |
| Flat occiput | 2.2% | 1/46 |
| Hypoplastic ilia | 2.2% | 1/46 |
| Joint contracture of the 5th finger | 2.2% | 1/46 |
| Metatarsus adductus | 2.2% | 1/46 |
| Metopic synostosis | 2.2% | 1/46 |
| Microcephaly | 2.2% | 1/46 |
| Micrognathia | 2.2% | 1/46 |
| Narrow chest | 2.2% | 1/46 |
| Patellar subluxation | 2.2% | 1/46 |
| Polysyndactyly of hallux | 2.2% | 1/46 |
| Postaxial hand polydactyly | 2.2% | 1/46 |
| Postaxial polysyndactyly of foot | 2.2% | 1/46 |
| Prominent occiput | 2.2% | 1/46 |
| Recurrent fractures | 2.2% | 1/46 |
| Retrognathia | 2.2% | 1/46 |
| Sagittal craniosynostosis | 2.2% | 1/46 |
| Sclerotic radial epiphyses | 2.2% | 1/46 |
| Short toe | 2.2% | 1/46 |
| Short middle phalanx of the 5th finger | 2.2% | 1/46 |
| Short finger | 2.2% | 1/46 |
| Short metatarsal | 2.2% | 1/46 |
| Short middle phalanx of the 2nd finger | 2.2% | 1/46 |
| Skull asymmetry | 2.2% | 1/46 |
| Slender finger | 2.2% | 1/46 |
| Small epiphyses | 2.2% | 1/46 |
| Small epiphyses of the distal phalanges of the hand | 2.2% | 1/46 |
| Structural foot deformity | 2.2% | 1/46 |
| Thoracolumbar scoliosis | 2.2% | 1/46 |
| Trigonocephaly | 2.2% | 1/46 |
| 2-3 toe syndactyly | 2.2% | 1/46 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 51.1% | 24/47 |
| Prominent fingertip pads | 12.8% | 6/47 |
| Eczema | 8.5% | 4/47 |
| Single transverse palmar crease | 6.4% | 3/47 |
| Sparse hair | 6.4% | 3/47 |
| Deep palmar crease | 4.3% | 2/47 |
| Hyperconvex nail | 4.3% | 2/47 |
| Hypoplastic toenails | 4.3% | 2/47 |
| Multiple cafe-au-lait spots | 4.3% | 2/47 |
| Soft skin | 4.3% | 2/47 |
| Abnormality of the fingernails | 2.1% | 1/47 |
| Abnormality of the palmar creases | 2.1% | 1/47 |
| Axillary freckling | 2.1% | 1/47 |
| Cutis laxa | 2.1% | 1/47 |
| Deep longitudinal plantar crease | 2.1% | 1/47 |
| Deep plantar creases | 2.1% | 1/47 |
| Dry skin | 2.1% | 1/47 |
| Fragile skin | 2.1% | 1/47 |
| Generalized hypertrichosis | 2.1% | 1/47 |
| Hemangioma | 2.1% | 1/47 |
| Hirsutism | 2.1% | 1/47 |
| Hypertrichosis | 2.1% | 1/47 |
| Hyperhidrosis | 2.1% | 1/47 |
| Hypopigmentation of the skin | 2.1% | 1/47 |
| Hypoplastic fingernail | 2.1% | 1/47 |
| Hypoplastic fifth toenail | 2.1% | 1/47 |
| Ingrown nail | 2.1% | 1/47 |
| Inguinal freckling | 2.1% | 1/47 |
| Localized hirsutism | 2.1% | 1/47 |
| Periauricular skin pits | 2.1% | 1/47 |
| Redundant skin in infancy | 2.1% | 1/47 |
| Skin pit | 2.1% | 1/47 |
| Small nail | 2.1% | 1/47 |
| Striae distensae | 2.1% | 1/47 |
| Thin nail | 2.1% | 1/47 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 2.2% | 1/46 |
| Diabetes mellitus | 2.2% | 1/46 |
| Abnormality of the immune system | 23.9% | 11/46 |
| Recurrent otitis media | 10.9% | 5/46 |
| Recurrent respiratory infections | 6.5% | 3/46 |
| Recurrent infections | 6.5% | 3/46 |
| Recurrent upper respiratory tract infections | 4.3% | 2/46 |
| Recurrent sinusitis | 2.2% | 1/46 |
| Recurrent pharyngitis | 2.2% | 1/46 |
| Recurrent urinary tract infections | 2.2% | 1/46 |