SON
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.9% | 28/55 |
| Female | 49.1% | 27/55 |
| Indifferent | 0% | 0/55 |
| Unknown | 0% | 0/55 |
| 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 muscular hypotonia | 3.8% | 2/53 |
| Severe global developmental delay | 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 focal sharp waves | 1.9% | 1/53 |
| EEG with intermittent slow activity | 1.9% | 1/53 |
| EEG with central focal spikes | 1.9% | 1/53 |
| EEG with occipital slowing | 1.9% | 1/53 |
| EEG with focal 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 |
| Spasticity | 1.9% | 1/53 |
| Spastic tetraplegia | 1.9% | 1/53 |
| Spastic diplegia | 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 cerebral cortex | 2.1% | 1/47 |
| Abnormality of the cerebrum | 2.1% | 1/47 |
| Abnormality of the third ventricle | 2.1% | 1/47 |
| Abnormality of the periventricular white matter | 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 cisterna magna | 2.1% | 1/47 |
| Enlarged fetal 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 nares | 2.3% | 1/43 |
| Abnormality of the nasolabial region | 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 branching pattern of the aortic arch | 2.0% | 1/51 |
| Abnormal heart morphology | 2.0% | 1/51 |
| Abnormality of cardiovascular system physiology | 2.0% | 1/51 |
| Abnormality of the systemic arterial tree | 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 after birth at term | 2.0% | 1/51 |
| Patent foramen ovale | 2.0% | 1/51 |
| Patent ductus arteriosus | 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 malrotation | 2.0% | 1/51 |
| Renal dysplasia | 2.0% | 1/51 |
| Shawl scrotum | 2.0% | 1/51 |
| Solitary renal cyst | 2.0% | 1/51 |
| Unilateral renal agenesis | 2.0% | 1/51 |
| Unilateral cryptorchidism | 2.0% | 1/51 |
| Unilateral renal hypoplasia | 2.0% | 1/51 |
| Unilateral renal atrophy | 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 |
| Hypertrophy of the lower limb | 3.9% | 2/51 |
| Hyperextensibility at elbow | 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 joint | 2.0% | 1/51 |
| Abnormality of the femoral neck | 2.0% | 1/51 |
| Abnormality of the foot | 2.0% | 1/51 |
| Abnormality of the thumb | 2.0% | 1/51 |
| Abnormality of the thorax | 2.0% | 1/51 |
| Abnormality of the hip bone | 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 | 2.0% | 1/51 |
| Clinodactyly of the 5th finger | 2.0% | 1/51 |
| Craniosynostosis | 2.0% | 1/51 |
| Cubitus valgus | 2.0% | 1/51 |
| Disproportionate short-trunk short stature | 2.0% | 1/51 |
| Disproportionate tall 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 posterior fossa | 2.0% | 1/51 |
| Small finger | 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 |
| Abnormal subcutaneous fat tissue distribution | 1.9% | 1/52 |
| Abnormality of skin morphology | 1.9% | 1/52 |
| Abnormality of the teeth | 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 acid-base homeostasis | 2.0% | 1/50 |
| Abnormality of temperature regulation | 2.0% | 1/50 |
| Albuminuria | 2.0% | 1/50 |
| Decreased serum creatinine | 2.0% | 1/50 |
| Decreased urinary potassium | 2.0% | 1/50 |
| Hyperkalemia | 2.0% | 1/50 |
| Hypercalciuria | 2.0% | 1/50 |
| Hypernatremia | 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 upper respiratory tract infections | 4.0% | 2/50 |
| Recurrent respiratory 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 bronchitis | 2.0% | 1/50 |
| Recurrent pneumonia | 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 |