| Gender |
|
|
| Male |
50.9% |
28/55 |
| Female |
49.1% |
27/55 |
| General |
|
|
| Birth Length abnormalities |
3.6% |
2/55 |
| < P3 : Birth length less than 3rd percentile |
3.6% |
2/55 |
| Birth Weight abnormalities |
25.5% |
14/55 |
| < P3 : Small for gestational age |
25.5% |
14/55 |
| Birth Head circumference abnormalities |
1.8% |
1/55 |
| < P3 : Congenital microcephaly |
1.8% |
1/55 |
| Current Height abnormalities |
50.9% |
28/55 |
| < P3 : Short stature |
50.9% |
28/55 |
| Current Weight abnormalities |
30.9% |
17/55 |
| < P3 : Decreased body weight |
29.1% |
16/55 |
| > P98 : Increased body weight |
1.8% |
1/55 |
| Current Head circumference abnormalities |
23.6% |
13/55 |
| < P3 : Microcephaly |
21.8% |
12/55 |
| > P98 : Macrocephaly |
1.8% |
1/55 |
| Neurology |
|
|
| Neurological abnormalities |
88.7% |
47/53 |
| Generalized hypotonia |
45.3% |
24/53 |
| Seizures |
20.8% |
11/53 |
| Global developmental delay |
15.1% |
8/53 |
| EEG abnormality |
11.3% |
6/53 |
| Developmental regression |
7.5% |
4/53 |
| Febrile seizures |
7.5% |
4/53 |
| Focal seizures with impairment of consciousness or awareness |
7.5% |
4/53 |
| Absence seizures |
5.7% |
3/53 |
| Generalized tonic-clonic seizures |
5.7% |
3/53 |
| Neonatal hypotonia |
5.7% |
3/53 |
| Complex febrile seizures |
3.8% |
2/53 |
| EEG with abnormally slow frequencies |
3.8% |
2/53 |
| Gait disturbance |
3.8% |
2/53 |
| Generalized neonatal hypotonia |
3.8% |
2/53 |
| Neurodevelopmental delay |
3.8% |
2/53 |
| Severe global developmental delay |
3.8% |
2/53 |
| Severe muscular hypotonia |
3.8% |
2/53 |
| Status epilepticus |
3.8% |
2/53 |
| Toe walking |
3.8% |
2/53 |
| Unsteady gait |
3.8% |
2/53 |
| Abnormality of coordination |
1.9% |
1/53 |
| Central hypotonia |
1.9% |
1/53 |
| Decreased patellar reflex |
1.9% |
1/53 |
| Difficulty standing |
1.9% |
1/53 |
| Dystonia |
1.9% |
1/53 |
| EEG with occipital slowing |
1.9% |
1/53 |
| EEG with focal sharp waves |
1.9% |
1/53 |
| EEG with focal slow activity |
1.9% |
1/53 |
| EEG with central focal spikes |
1.9% |
1/53 |
| EEG with intermittent slow activity |
1.9% |
1/53 |
| EMG abnormality |
1.9% |
1/53 |
| Focal seizures |
1.9% |
1/53 |
| Hemiparesis |
1.9% |
1/53 |
| Hypertonia |
1.9% |
1/53 |
| Impaired pain sensation |
1.9% |
1/53 |
| Infantile muscular hypotonia |
1.9% |
1/53 |
| Muscular hypotonia |
1.9% |
1/53 |
| Muscular hypotonia of the trunk |
1.9% |
1/53 |
| Nystagmus |
1.9% |
1/53 |
| Peripheral demyelination |
1.9% |
1/53 |
| Polyneuropathy |
1.9% |
1/53 |
| Postural instability |
1.9% |
1/53 |
| Severe neonatal hypotonia in males |
1.9% |
1/53 |
| Shuffling gait |
1.9% |
1/53 |
| Spastic tetraplegia |
1.9% |
1/53 |
| Spastic diplegia |
1.9% |
1/53 |
| Spasticity |
1.9% |
1/53 |
| Behavioral problems |
58.0% |
29/50 |
| Sleep disturbance |
18.0% |
9/50 |
| Behavioral abnormality |
16.0% |
8/50 |
| Autism |
10.0% |
5/50 |
| Short attention span |
8.0% |
4/50 |
| Autistic behavior |
6.0% |
3/50 |
| Hyperactivity |
6.0% |
3/50 |
| Insomnia |
6.0% |
3/50 |
| Self-injurious behavior |
6.0% |
3/50 |
| Aggressive behavior |
4.0% |
2/50 |
| Global developmental delay |
4.0% |
2/50 |
| Repetitive compulsive behavior |
4.0% |
2/50 |
| Stereotypic behavior |
4.0% |
2/50 |
| Abnormal aggressive, impulsive or violent behavior |
2.0% |
1/50 |
| Anxiety |
2.0% |
1/50 |
| Auditory hallucinations |
2.0% |
1/50 |
| Hyperacusis |
2.0% |
1/50 |
| Impaired social interactions |
2.0% |
1/50 |
| Low frustration tolerance |
2.0% |
1/50 |
| No social interaction |
2.0% |
1/50 |
| Poor eye contact |
2.0% |
1/50 |
| Recurrent hand flapping |
2.0% |
1/50 |
| Restlessness |
2.0% |
1/50 |
| Brain abnormality |
80.9% |
38/47 |
| Ventriculomegaly |
40.4% |
19/47 |
| Abnormality of the corpus callosum |
21.3% |
10/47 |
| Cortical dysplasia |
14.9% |
7/47 |
| Hypoplasia of the corpus callosum |
14.9% |
7/47 |
| Abnormality of the cerebral white matter |
10.6% |
5/47 |
| Abnormality of the cerebellum |
8.5% |
4/47 |
| Widened subarachnoid space |
8.5% |
4/47 |
| Cavum septum pellucidum |
6.4% |
3/47 |
| Dilation of lateral ventricles |
6.4% |
3/47 |
| Extra-axial cerebrospinal fluid accumulation |
6.4% |
3/47 |
| Gliosis |
6.4% |
3/47 |
| Perisylvian polymicrogyria |
6.4% |
3/47 |
| Polymicrogyria |
6.4% |
3/47 |
| Abnormality of lateral ventricle |
4.3% |
2/47 |
| Abnormality of the fourth ventricle |
4.3% |
2/47 |
| Arachnoid cyst |
4.3% |
2/47 |
| Cerebellar hypoplasia |
4.3% |
2/47 |
| Heterotopia |
4.3% |
2/47 |
| Hydrocephalus |
4.3% |
2/47 |
| Periventricular gray matter heterotopia |
4.3% |
2/47 |
| Abnormality of the periventricular white matter |
2.1% |
1/47 |
| Abnormality of the cerebrum |
2.1% |
1/47 |
| Abnormality of the cerebral cortex |
2.1% |
1/47 |
| Abnormality of the third ventricle |
2.1% |
1/47 |
| Arnold-Chiari malformation |
2.1% |
1/47 |
| Asymmetric ventricles |
2.1% |
1/47 |
| Brain atrophy |
2.1% |
1/47 |
| Cerebral atrophy |
2.1% |
1/47 |
| Communicating hydrocephalus |
2.1% |
1/47 |
| Cortical gyral simplification |
2.1% |
1/47 |
| Delayed CNS myelination |
2.1% |
1/47 |
| Dysplastic corpus callosum |
2.1% |
1/47 |
| Enlarged fetal cisterna magna |
2.1% |
1/47 |
| Enlarged cisterna magna |
2.1% |
1/47 |
| Ischemic stroke |
2.1% |
1/47 |
| Limbic malformations |
2.1% |
1/47 |
| Morphological abnormality of the central nervous system |
2.1% |
1/47 |
| Multifocal cerebral white matter abnormalities |
2.1% |
1/47 |
| Noncommunicating hydrocephalus |
2.1% |
1/47 |
| Optic nerve hypoplasia |
2.1% |
1/47 |
| Periventricular leukomalacia |
2.1% |
1/47 |
| Progressive ventriculomegaly |
2.1% |
1/47 |
| Small posterior fossa |
2.1% |
1/47 |
| Transient ischemic attack |
2.1% |
1/47 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
68.2% |
30/44 |
| Low-set ears |
47.7% |
21/44 |
| Posteriorly rotated ears |
11.4% |
5/44 |
| Abnormality of the pinna |
4.5% |
2/44 |
| Macrotia |
4.5% |
2/44 |
| Protruding ear |
4.5% |
2/44 |
| Abnormality of earlobe |
2.3% |
1/44 |
| Hypoplastic helices |
2.3% |
1/44 |
| Low-set, posteriorly rotated ears |
2.3% |
1/44 |
| Microtia |
2.3% |
1/44 |
| Abnormality of the eye |
95.8% |
46/48 |
| Downslanted palpebral fissures |
50.0% |
24/48 |
| Strabismus |
43.8% |
21/48 |
| Deeply set eye |
25.0% |
12/48 |
| Epicanthus |
18.8% |
9/48 |
| Hypertelorism |
12.5% |
6/48 |
| Esotropia |
8.3% |
4/48 |
| Long palpebral fissure |
6.3% |
3/48 |
| Prominent epicanthal folds |
6.3% |
3/48 |
| Exotropia |
4.2% |
2/48 |
| Abnormality of eye movement |
2.1% |
1/48 |
| Aplasia/Hypoplasia affecting the eye |
2.1% |
1/48 |
| Cleft eyelid |
2.1% |
1/48 |
| Horizontal eyebrow |
2.1% |
1/48 |
| Proptosis |
2.1% |
1/48 |
| Sparse lateral eyebrow |
2.1% |
1/48 |
| Synophrys |
2.1% |
1/48 |
| Unilateral ptosis |
2.1% |
1/48 |
| Upslanted palpebral fissure |
2.1% |
1/48 |
| Abnormality of the nose |
72.1% |
31/43 |
| Abnormality of the nasal bridge |
27.9% |
12/43 |
| Wide nasal bridge |
16.3% |
7/43 |
| Depressed nasal bridge |
11.6% |
5/43 |
| Short nose |
11.6% |
5/43 |
| Bulbous nose |
7.0% |
3/43 |
| Broad nasal tip |
4.7% |
2/43 |
| Underdeveloped nasal alae |
4.7% |
2/43 |
| Abnormality of the nasolabial region |
2.3% |
1/43 |
| Abnormality of the nares |
2.3% |
1/43 |
| Convex nasal ridge |
2.3% |
1/43 |
| Flared nostrils |
2.3% |
1/43 |
| Low hanging columella |
2.3% |
1/43 |
| Prominent nose |
2.3% |
1/43 |
| Wide nasal base |
2.3% |
1/43 |
| Abnormality of the mouth |
75.0% |
33/44 |
| Short philtrum |
40.9% |
18/44 |
| Downturned corners of mouth |
13.6% |
6/44 |
| Thin upper lip vermilion |
13.6% |
6/44 |
| Narrow mouth |
9.1% |
4/44 |
| Smooth philtrum |
9.1% |
4/44 |
| Bifid uvula |
4.5% |
2/44 |
| Cleft palate |
4.5% |
2/44 |
| Everted lower lip vermilion |
4.5% |
2/44 |
| High palate |
4.5% |
2/44 |
| Thick lower lip vermilion |
4.5% |
2/44 |
| Thin vermilion border |
4.5% |
2/44 |
| Abnormality of the maxilla |
2.3% |
1/44 |
| Ankyloglossia |
2.3% |
1/44 |
| Dental malocclusion |
2.3% |
1/44 |
| Long philtrum |
2.3% |
1/44 |
| Open mouth |
2.3% |
1/44 |
| Overbite |
2.3% |
1/44 |
| Thick vermilion border |
2.3% |
1/44 |
| Thin lower lip vermilion |
2.3% |
1/44 |
| Widely spaced teeth |
2.3% |
1/44 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
15.7% |
8/51 |
| Bilateral sensorineural hearing impairment |
3.9% |
2/51 |
| Hearing impairment |
3.9% |
2/51 |
| Mild hearing impairment |
3.9% |
2/51 |
| Bilateral conductive hearing impairment |
2.0% |
1/51 |
| Hearing abnormality |
2.0% |
1/51 |
| Abnormal vision |
43.1% |
22/51 |
| Hypermetropia |
17.6% |
9/51 |
| Cortical visual impairment |
9.8% |
5/51 |
| Myopia |
7.8% |
4/51 |
| Astigmatism |
5.9% |
3/51 |
| High-grade hypermetropia |
3.9% |
2/51 |
| Abnormal eye physiology |
2.0% |
1/51 |
| Abnormality of vision |
2.0% |
1/51 |
| Amblyopia |
2.0% |
1/51 |
| Blue sclerae |
2.0% |
1/51 |
| Optic nerve hypoplasia |
2.0% |
1/51 |
| Progressive visual loss |
2.0% |
1/51 |
| Reduced visual acuity |
2.0% |
1/51 |
| Severe photosensitivity |
2.0% |
1/51 |
| Slow saccadic eye movements |
2.0% |
1/51 |
| Strabismus |
2.0% |
1/51 |
| Heart |
|
|
| Abnormality of the heart |
31.4% |
16/51 |
| Ventricular septal defect |
9.8% |
5/51 |
| Hypertension |
7.8% |
4/51 |
| Atria septal defect |
5.9% |
3/51 |
| Secundum atrial septal defect |
3.9% |
2/51 |
| Abnormal heart morphology |
2.0% |
1/51 |
| Abnormal branching pattern of the aortic arch |
2.0% |
1/51 |
| Abnormality of the systemic arterial tree |
2.0% |
1/51 |
| Abnormality of cardiovascular system physiology |
2.0% |
1/51 |
| Arrhythmia |
2.0% |
1/51 |
| Bicuspid aortic valve |
2.0% |
1/51 |
| Dysplastic aortic valve |
2.0% |
1/51 |
| Heart murmur |
2.0% |
1/51 |
| Hypoplastic left heart |
2.0% |
1/51 |
| Patent ductus arteriosus |
2.0% |
1/51 |
| Patent ductus arteriosus after birth at term |
2.0% |
1/51 |
| Patent foramen ovale |
2.0% |
1/51 |
| Primum atrial septal defect |
2.0% |
1/51 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
72.0% |
36/50 |
| Feeding difficulties in infancy |
38.0% |
19/50 |
| Feeding difficulties |
28.0% |
14/50 |
| Dysphagia |
10.0% |
5/50 |
| Gastrostomy tube feeding in infancy |
10.0% |
5/50 |
| Gastroesophageal reflux |
10.0% |
5/50 |
| Constipation |
8.0% |
4/50 |
| Duodenal atresia |
4.0% |
2/50 |
| Gastroparesis |
4.0% |
2/50 |
| Intestinal malrotation |
4.0% |
2/50 |
| Nasogastric tube feeding in infancy |
4.0% |
2/50 |
| Poor suck |
4.0% |
2/50 |
| Abnormal eating behavior |
2.0% |
1/50 |
| Abnormality of the duodenum |
2.0% |
1/50 |
| Absent gallbladder |
2.0% |
1/50 |
| Chronic diarrhea |
2.0% |
1/50 |
| Diarrhea |
2.0% |
1/50 |
| Exocrine pancreatic insufficiency |
2.0% |
1/50 |
| Gastrointestinal dysmotility |
2.0% |
1/50 |
| Hypoplasia of the gallbladder |
2.0% |
1/50 |
| Nausea and vomiting |
2.0% |
1/50 |
| Oral-pharyngeal dysphagia |
2.0% |
1/50 |
| Poor appetite |
2.0% |
1/50 |
| Umbilical hernia |
2.0% |
1/50 |
| Vomiting |
2.0% |
1/50 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
43.1% |
22/51 |
| Horseshoe kidney |
11.8% |
6/51 |
| Multiple renal cysts |
5.9% |
3/51 |
| Multicystic kidney dysplasia |
3.9% |
2/51 |
| Abnormal renal morphology |
2.0% |
1/51 |
| Bilateral renal hypoplasia |
2.0% |
1/51 |
| Cryptorchidism |
2.0% |
1/51 |
| Enlarged kidneys |
2.0% |
1/51 |
| Hydronephrosis |
2.0% |
1/51 |
| Hypoplasia of the uterus |
2.0% |
1/51 |
| Hypoplasia of the ovary |
2.0% |
1/51 |
| Hypoplastic labia majora |
2.0% |
1/51 |
| Inguinal hernia |
2.0% |
1/51 |
| Nephrocalcinosis |
2.0% |
1/51 |
| Polyuria |
2.0% |
1/51 |
| Renal hypoplasia |
2.0% |
1/51 |
| Renal dysplasia |
2.0% |
1/51 |
| Renal malrotation |
2.0% |
1/51 |
| Shawl scrotum |
2.0% |
1/51 |
| Solitary renal cyst |
2.0% |
1/51 |
| Unilateral renal hypoplasia |
2.0% |
1/51 |
| Unilateral renal atrophy |
2.0% |
1/51 |
| Unilateral renal agenesis |
2.0% |
1/51 |
| Unilateral cryptorchidism |
2.0% |
1/51 |
| Uric acid urolithiasis independent of gout |
2.0% |
1/51 |
| Vesicoureteral reflux |
2.0% |
1/51 |
| Skeleton |
|
|
| Skeletal abnormalities |
80.4% |
41/51 |
| Joint hypermobility |
25.5% |
13/51 |
| Pes planus |
19.6% |
10/51 |
| Short foot |
9.8% |
5/51 |
| Abnormality of the curvature of the vertebral column |
7.8% |
4/51 |
| Delayed skeletal maturation |
5.9% |
3/51 |
| Hip dysplasia |
5.9% |
3/51 |
| Joint laxity |
5.9% |
3/51 |
| Sagittal craniosynostosis |
5.9% |
3/51 |
| Short toe |
5.9% |
3/51 |
| Abnormality of limbs |
3.9% |
2/51 |
| Cervical ribs |
3.9% |
2/51 |
| Dolichocephaly |
3.9% |
2/51 |
| Finger joint hypermobility |
3.9% |
2/51 |
| Flexion contracture |
3.9% |
2/51 |
| Genu valgum |
3.9% |
2/51 |
| Hemivertebrae |
3.9% |
2/51 |
| Hyperextensibility at elbow |
3.9% |
2/51 |
| Hypertrophy of the lower limb |
3.9% |
2/51 |
| Long fingers |
3.9% |
2/51 |
| Short distal phalanx of finger |
3.9% |
2/51 |
| Short finger |
3.9% |
2/51 |
| Abnormality of the hip bone |
2.0% |
1/51 |
| Abnormality of the thorax |
2.0% |
1/51 |
| Abnormality of the thumb |
2.0% |
1/51 |
| Abnormality of the hip joint |
2.0% |
1/51 |
| Abnormality of the femoral neck |
2.0% |
1/51 |
| Abnormality of the foot |
2.0% |
1/51 |
| Absent thumb |
2.0% |
1/51 |
| Aplasia/Hypoplasia of the 4th toe |
2.0% |
1/51 |
| Aplasia/Hypoplasia of the thumb |
2.0% |
1/51 |
| Arachnodactyly |
2.0% |
1/51 |
| Aseptic necrosis |
2.0% |
1/51 |
| Avascular necrosis of the capital femoral epiphysis |
2.0% |
1/51 |
| Bilateral talipes equinovarus |
2.0% |
1/51 |
| Brachydactyly syndrome |
2.0% |
1/51 |
| Camptodactyly of finger |
2.0% |
1/51 |
| Clinodactyly of the 5th finger |
2.0% |
1/51 |
| Clinodactyly |
2.0% |
1/51 |
| Craniosynostosis |
2.0% |
1/51 |
| Cubitus valgus |
2.0% |
1/51 |
| Disproportionate tall stature |
2.0% |
1/51 |
| Disproportionate short-trunk short stature |
2.0% |
1/51 |
| Distal arthrogryposis |
2.0% |
1/51 |
| Generalized osteoporosis |
2.0% |
1/51 |
| Hypertrophy of the upper limb |
2.0% |
1/51 |
| Hyperlordosis |
2.0% |
1/51 |
| Hypermobility of interphalangeal joints |
2.0% |
1/51 |
| Hypoplasia of the maxilla |
2.0% |
1/51 |
| Increased arm span |
2.0% |
1/51 |
| Kyphoscoliosis |
2.0% |
1/51 |
| Lumbar hyperlordosis |
2.0% |
1/51 |
| Osteoporosis |
2.0% |
1/51 |
| Pectus excavatum |
2.0% |
1/51 |
| Plagiocephaly |
2.0% |
1/51 |
| Proximal placement of thumb |
2.0% |
1/51 |
| Reduced bone mineral density |
2.0% |
1/51 |
| Rib fusion |
2.0% |
1/51 |
| Scoliosis |
2.0% |
1/51 |
| Skeletal muscle atrophy |
2.0% |
1/51 |
| Slender finger |
2.0% |
1/51 |
| Small finger |
2.0% |
1/51 |
| Small posterior fossa |
2.0% |
1/51 |
| Small hand |
2.0% |
1/51 |
| Structural foot deformity |
2.0% |
1/51 |
| Syndactyly |
2.0% |
1/51 |
| Talipes equinovarus |
2.0% |
1/51 |
| Tapered finger |
2.0% |
1/51 |
| Thoracic hemivertebrae |
2.0% |
1/51 |
| Trigonocephaly |
2.0% |
1/51 |
| Unicoronal synostosis |
2.0% |
1/51 |
| Valgus foot deformity |
2.0% |
1/51 |
| Vertebral fusion |
2.0% |
1/51 |
| 2-3 toe syndactyly |
2.0% |
1/51 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
46.2% |
24/52 |
| Sacral dimple |
9.6% |
5/52 |
| Curly hair |
7.7% |
4/52 |
| Prominent fingertip pads |
7.7% |
4/52 |
| Abnormality of the toenails |
5.8% |
3/52 |
| Fine hair |
5.8% |
3/52 |
| Single transverse palmar crease |
5.8% |
3/52 |
| Abnormality of dental enamel |
3.8% |
2/52 |
| Abnormality of the hairline |
3.8% |
2/52 |
| Carious teeth |
3.8% |
2/52 |
| Fair hair |
3.8% |
2/52 |
| Hyperconvex nail |
3.8% |
2/52 |
| Jaundice |
3.8% |
2/52 |
| Soft, doughy skin |
3.8% |
2/52 |
| Abnormality of the teeth |
1.9% |
1/52 |
| Abnormal subcutaneous fat tissue distribution |
1.9% |
1/52 |
| Abnormality of skin morphology |
1.9% |
1/52 |
| Blue nevus |
1.9% |
1/52 |
| Bridged palmar crease |
1.9% |
1/52 |
| Bruising susceptibility |
1.9% |
1/52 |
| Concave nail |
1.9% |
1/52 |
| Decreased palmar creases |
1.9% |
1/52 |
| Dermal translucency |
1.9% |
1/52 |
| Dystrophic toenail |
1.9% |
1/52 |
| Ectodermal dysplasia |
1.9% |
1/52 |
| Generalized hypoplasia of dental enamel |
1.9% |
1/52 |
| Grayish enamel |
1.9% |
1/52 |
| Hyperkeratosis |
1.9% |
1/52 |
| Hyperextensible skin |
1.9% |
1/52 |
| Incisor macrodontia |
1.9% |
1/52 |
| Inguinal freckling |
1.9% |
1/52 |
| Low anterior hairline |
1.9% |
1/52 |
| Melanonychia |
1.9% |
1/52 |
| Microdontia |
1.9% |
1/52 |
| Multiple cafe-au-lait spots |
1.9% |
1/52 |
| Nail dystrophy |
1.9% |
1/52 |
| Nail dysplasia |
1.9% |
1/52 |
| Oligodontia |
1.9% |
1/52 |
| Profuse pigmented skin lesions |
1.9% |
1/52 |
| Small nail |
1.9% |
1/52 |
| Soft skin |
1.9% |
1/52 |
| Yellow nails |
1.9% |
1/52 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
14.9% |
7/47 |
| Growth hormone deficiency |
8.5% |
4/47 |
| Hypothyroidism |
4.3% |
2/47 |
| Abnormality of circulating hormone level |
2.1% |
1/47 |
| Decreased serum insulin-like growth factor 1 |
2.1% |
1/47 |
| Thyroid-stimulating hormone excess |
2.1% |
1/47 |
| Abnormality of the metabolic system |
20.0% |
10/50 |
| Abnormality of mitochondrial metabolism |
4.0% |
2/50 |
| Neonatal hypoglycemia |
4.0% |
2/50 |
| Abnormal protein O-linked glycosylation |
2.0% |
1/50 |
| Abnormality of temperature regulation |
2.0% |
1/50 |
| Abnormality of acid-base homeostasis |
2.0% |
1/50 |
| Albuminuria |
2.0% |
1/50 |
| Decreased urinary potassium |
2.0% |
1/50 |
| Decreased serum creatinine |
2.0% |
1/50 |
| Hypernatremia |
2.0% |
1/50 |
| Hyperkalemia |
2.0% |
1/50 |
| Hypercalciuria |
2.0% |
1/50 |
| Hypoglycemia |
2.0% |
1/50 |
| Hypokalemia |
2.0% |
1/50 |
| Increased serum lactate |
2.0% |
1/50 |
| Temperature instability |
2.0% |
1/50 |
| Abnormality of the immune system |
34.0% |
17/50 |
| Recurrent otitis media |
14.0% |
7/50 |
| IgA deficiency |
8.0% |
4/50 |
| Recurrent urinary tract infections |
6.0% |
3/50 |
| Abnormality of T cell number |
4.0% |
2/50 |
| Pneumonia |
4.0% |
2/50 |
| Recurrent respiratory infections |
4.0% |
2/50 |
| Recurrent upper respiratory tract infections |
4.0% |
2/50 |
| Abnormal immunoglobulin level |
2.0% |
1/50 |
| Decreased antibody level in blood |
2.0% |
1/50 |
| IgG deficiency |
2.0% |
1/50 |
| Otitis media |
2.0% |
1/50 |
| Pancreatitis |
2.0% |
1/50 |
| Recurrent pneumonia |
2.0% |
1/50 |
| Recurrent bronchitis |
2.0% |
1/50 |
| Recurrent viral infections |
2.0% |
1/50 |
| Recurrent infections |
2.0% |
1/50 |
| Sepsis |
2.0% |
1/50 |
| Specific antibody deficiency |
2.0% |
1/50 |
| Neoplasia |
|
|
| Neoplasia |
3.8% |
2/52 |
| Hemangioma |
1.9% |
1/52 |
| Medulloblastoma |
1.9% |
1/52 |
| Osteochondroma |
1.9% |
1/52 |