| Gender |
|
|
| Male |
43.0% |
80/186 |
| Female |
57.0% |
106/186 |
| General |
|
|
| Birth Length abnormalities |
5.7% |
9/157 |
| > P98 : Birth length greater than 97th percentile |
0.6% |
1/157 |
| < P3 : Birth length less than 3rd percentile |
5.1% |
8/157 |
| Birth Weight abnormalities |
15.2% |
27/178 |
| < P3 : Small for gestational age |
15.2% |
27/178 |
| Birth Head circumference abnormalities |
2.5% |
4/158 |
| > P98 : Macrocephaly at birth |
1.9% |
3/158 |
| < P3 : Congenital microcephaly |
0.6% |
1/158 |
| Current Height abnormalities |
18.4% |
33/179 |
| < P3 : Short stature |
17.9% |
32/179 |
| > P98 : Tall stature |
0.6% |
1/179 |
| Current Weight abnormalities |
8.7% |
15/173 |
| < P3 : Decreased body weight |
8.1% |
14/173 |
| > P98 : Increased body weight |
0.6% |
1/173 |
| Current Head circumference abnormalities |
8.9% |
16/180 |
| > P98 : Macrocephaly |
6.1% |
11/180 |
| < P3 : Microcephaly |
2.8% |
5/180 |
| Neurology |
|
|
| Neurological abnormalities |
92.9% |
158/170 |
| Generalized hypotonia |
67.6% |
115/170 |
| Seizures |
35.9% |
61/170 |
| EEG abnormality |
20.6% |
35/170 |
| Neonatal hypotonia |
4.7% |
8/170 |
| Generalized tonic-clonic seizures |
3.5% |
6/170 |
| Speech apraxia |
2.9% |
5/170 |
| Febrile seizures |
2.4% |
4/170 |
| Absence seizures |
1.8% |
3/170 |
| Dysarthria |
1.8% |
3/170 |
| Global developmental delay |
1.8% |
3/170 |
| Status epilepticus |
1.8% |
3/170 |
| Delayed speech and language development |
1.2% |
2/170 |
| Focal seizures |
1.2% |
2/170 |
| Impaired pain sensation |
1.2% |
2/170 |
| Unsteady gait |
1.2% |
2/170 |
| Abnormality of the periventricular white matter |
0.6% |
1/170 |
| Ankle clonus |
0.6% |
1/170 |
| Apraxia |
0.6% |
1/170 |
| Ataxia |
0.6% |
1/170 |
| Atonic seizures |
0.6% |
1/170 |
| Broad-based gait |
0.6% |
1/170 |
| Communicating hydrocephalus |
0.6% |
1/170 |
| Dysmetria |
0.6% |
1/170 |
| EEG with focal sharp slow waves |
0.6% |
1/170 |
| EEG with generalized epileptiform discharges |
0.6% |
1/170 |
| Epileptiform EEG discharges |
0.6% |
1/170 |
| Epileptic spasms |
0.6% |
1/170 |
| Gait ataxia |
0.6% |
1/170 |
| Generalized clonic seizures |
0.6% |
1/170 |
| Generalized muscle weakness |
0.6% |
1/170 |
| Hemiclonic seizures |
0.6% |
1/170 |
| Hemiparesis |
0.6% |
1/170 |
| Hypertonia |
0.6% |
1/170 |
| Hypsarrhythmia |
0.6% |
1/170 |
| Impaired visuospatial constructive cognition |
0.6% |
1/170 |
| Inability to walk |
0.6% |
1/170 |
| Infantile spasms |
0.6% |
1/170 |
| Infantile muscular hypotonia |
0.6% |
1/170 |
| Limb apraxia |
0.6% |
1/170 |
| Lower limb hyperreflexia |
0.6% |
1/170 |
| Medulloblastoma |
0.6% |
1/170 |
| Moderate global developmental delay |
0.6% |
1/170 |
| Muscle weakness |
0.6% |
1/170 |
| Neurological speech impairment |
0.6% |
1/170 |
| Oromotor apraxia |
0.6% |
1/170 |
| Severe muscular hypotonia |
0.6% |
1/170 |
| Simple febrile seizures |
0.6% |
1/170 |
| Tetraplegia |
0.6% |
1/170 |
| Behavioral problems |
88.8% |
142/160 |
| Overfriendliness |
48.8% |
78/160 |
| Anxiety |
10.6% |
17/160 |
| Global developmental delay |
10.6% |
17/160 |
| Abnormal social behavior |
8.1% |
13/160 |
| Attention deficit hyperactivity disorder |
8.1% |
13/160 |
| Short attention span |
6.3% |
10/160 |
| Autistic behavior |
5.0% |
8/160 |
| Hyperactivity |
5.0% |
8/160 |
| Poor eye contact |
5.0% |
8/160 |
| Behavioral abnormality |
4.4% |
7/160 |
| Impaired social interactions |
2.5% |
4/160 |
| Obsessive-compulsive behavior |
2.5% |
4/160 |
| Stereotypic behavior |
2.5% |
4/160 |
| Impulsivity |
1.9% |
3/160 |
| Inflexible adherence to routines or rituals |
1.9% |
3/160 |
| Aggressive behavior |
1.3% |
2/160 |
| Oppositional defiant disorder |
1.3% |
2/160 |
| Perseveration |
1.3% |
2/160 |
| Shyness |
1.3% |
2/160 |
| Sleep disturbance |
1.3% |
2/160 |
| Agitation |
0.6% |
1/160 |
| Delayed social development |
0.6% |
1/160 |
| Depression |
0.6% |
1/160 |
| Eye poking |
0.6% |
1/160 |
| Insomnia |
0.6% |
1/160 |
| Irritability |
0.6% |
1/160 |
| Phonophobia |
0.6% |
1/160 |
| Polydipsia |
0.6% |
1/160 |
| Polyphagia |
0.6% |
1/160 |
| Psychosis |
0.6% |
1/160 |
| Seizures |
0.6% |
1/160 |
| Self-biting |
0.6% |
1/160 |
| Brain abnormality |
61.4% |
70/114 |
| Ventriculomegaly |
15.8% |
18/114 |
| Aplasia/Hypoplasia of the corpus callosum |
7.0% |
8/114 |
| Abnormality of the cerebral ventricles |
5.3% |
6/114 |
| Hydrocephalus |
5.3% |
6/114 |
| Hypoplasia of the corpus callosum |
5.3% |
6/114 |
| Agenesis of corpus callosum |
4.4% |
5/114 |
| EEG abnormality |
4.4% |
5/114 |
| Dilation of lateral ventricles |
3.5% |
4/114 |
| Delayed CNS myelination |
2.6% |
3/114 |
| Perivascular spaces |
2.6% |
3/114 |
| Abnormality of lateral ventricle |
1.8% |
2/114 |
| Abnormality of the corpus callosum |
1.8% |
2/114 |
| Abnormality of the cerebral white matter |
1.8% |
2/114 |
| Arnold-Chiari type I malformation |
1.8% |
2/114 |
| Cerebral white matter atrophy |
1.8% |
2/114 |
| Cerebral atrophy |
1.8% |
2/114 |
| Choroid plexus cyst |
1.8% |
2/114 |
| Dysplastic corpus callosum |
1.8% |
2/114 |
| Heterotopia |
1.8% |
2/114 |
| Abnormality of the septum pellucidum |
0.9% |
1/114 |
| Abnormality of the periventricular white matter |
0.9% |
1/114 |
| Abnormality of the posterior pituitary |
0.9% |
1/114 |
| Abnormality of the posterior cranial fossa |
0.9% |
1/114 |
| Abnormality of brain morphology |
0.9% |
1/114 |
| Abnormality of the pituitary gland |
0.9% |
1/114 |
| Abnormality of neuronal migration |
0.9% |
1/114 |
| Anterior pituitary hypoplasia |
0.9% |
1/114 |
| Cerebral hemorrhage |
0.9% |
1/114 |
| Cerebellar hypoplasia |
0.9% |
1/114 |
| Cervical cord compression |
0.9% |
1/114 |
| Colpocephaly |
0.9% |
1/114 |
| Communicating hydrocephalus |
0.9% |
1/114 |
| Cortical dysplasia |
0.9% |
1/114 |
| Cranial nerve VI palsy |
0.9% |
1/114 |
| Dolichocephaly |
0.9% |
1/114 |
| Dural ectasia |
0.9% |
1/114 |
| Enlarged cisterna magna |
0.9% |
1/114 |
| Generalized cerebral atrophy/hypoplasia |
0.9% |
1/114 |
| Gliosis |
0.9% |
1/114 |
| Gray matter heterotopias |
0.9% |
1/114 |
| Hydromyelia |
0.9% |
1/114 |
| Intraventricular hemorrhage |
0.9% |
1/114 |
| Limbic malformations |
0.9% |
1/114 |
| Macrocephaly |
0.9% |
1/114 |
| Medulloblastoma |
0.9% |
1/114 |
| Partial agenesis of the corpus callosum |
0.9% |
1/114 |
| Periventricular white matter hypodensities |
0.9% |
1/114 |
| Pineal cyst |
0.9% |
1/114 |
| Spina bifida |
0.9% |
1/114 |
| Syringomyelia |
0.9% |
1/114 |
| Tethered cord |
0.9% |
1/114 |
| Widened subarachnoid space |
0.9% |
1/114 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
66.4% |
85/128 |
| Macrotia |
31.3% |
40/128 |
| Protruding ear |
28.9% |
37/128 |
| Low-set ears |
25.0% |
32/128 |
| Anteverted ears |
4.7% |
6/128 |
| Low-set, posteriorly rotated ears |
4.7% |
6/128 |
| Microtia |
3.9% |
5/128 |
| Cupped ear |
3.1% |
4/128 |
| Overfolded helix |
2.3% |
3/128 |
| Large earlobe |
1.6% |
2/128 |
| Preauricular pit |
1.6% |
2/128 |
| Small earlobe |
1.6% |
2/128 |
| Underdeveloped crus of the helix |
1.6% |
2/128 |
| Abnormality of earlobe |
0.8% |
1/128 |
| Abnormality of the pinna |
0.8% |
1/128 |
| Abnormally folded helix |
0.8% |
1/128 |
| Abnormality of the helix |
0.8% |
1/128 |
| Darwin tubercle of helix |
0.8% |
1/128 |
| Hypoplasia of the ear cartilage |
0.8% |
1/128 |
| Overfolding of the superior helices |
0.8% |
1/128 |
| Posteriorly rotated ears |
0.8% |
1/128 |
| Prominent ear helix |
0.8% |
1/128 |
| Round ear |
0.8% |
1/128 |
| Stenosis of the external auditory canal |
0.8% |
1/128 |
| Thickened ears |
0.8% |
1/128 |
| Thickened helices |
0.8% |
1/128 |
| Underdeveloped superior crus of antihelix |
0.8% |
1/128 |
| Abnormality of the eye |
91.2% |
124/136 |
| Upslanted palpebral fissure |
52.9% |
72/136 |
| Epicanthus |
41.2% |
56/136 |
| Ptosis |
27.9% |
38/136 |
| Blepharophimosis |
24.3% |
33/136 |
| Hypertelorism |
14.0% |
19/136 |
| Iris hypopigmentation |
11.8% |
16/136 |
| Prominent epicanthal folds |
5.9% |
8/136 |
| Sparse eyebrow |
4.4% |
6/136 |
| Strabismus |
4.4% |
6/136 |
| Deeply set eye |
3.7% |
5/136 |
| Astigmatism |
2.2% |
3/136 |
| Short palpebral fissure |
2.2% |
3/136 |
| Hypermetropia |
1.5% |
2/136 |
| Small palpebral fissure |
1.5% |
2/136 |
| Telecanthus |
1.5% |
2/136 |
| Abnormality of the lens |
0.7% |
1/136 |
| Almond-shaped palpebral fissure |
0.7% |
1/136 |
| Downslanted palpebral fissures |
0.7% |
1/136 |
| Epicanthus inversus |
0.7% |
1/136 |
| Esotropia |
0.7% |
1/136 |
| Exotropia |
0.7% |
1/136 |
| Facial hemangioma |
0.7% |
1/136 |
| Heterochromia iridis |
0.7% |
1/136 |
| Infra-orbital crease |
0.7% |
1/136 |
| Lacrimal duct stenosis |
0.7% |
1/136 |
| Nystagmus |
0.7% |
1/136 |
| Periorbital fullness |
0.7% |
1/136 |
| Severe Myopia |
0.7% |
1/136 |
| Thick eyebrow |
0.7% |
1/136 |
| Abnormality of the nose |
91.5% |
119/130 |
| Bulbous nose |
63.8% |
83/130 |
| Pear-shaped nose |
60.0% |
78/130 |
| Prominent nasal bridge |
6.9% |
9/130 |
| Broad nasal tip |
4.6% |
6/130 |
| Underdeveloped nasal alae |
4.6% |
6/130 |
| Wide nose |
4.6% |
6/130 |
| Low hanging columella |
3.8% |
5/130 |
| Prominent nasal tip |
3.8% |
5/130 |
| Depressed nasal bridge |
3.1% |
4/130 |
| Wide nasal base |
3.1% |
4/130 |
| Wide nasal bridge |
3.1% |
4/130 |
| Anteverted nares |
2.3% |
3/130 |
| Long nose |
2.3% |
3/130 |
| Prominent nose |
2.3% |
3/130 |
| Thick nasal alae |
2.3% |
3/130 |
| Broad columella |
1.5% |
2/130 |
| Cleft ala nasi |
1.5% |
2/130 |
| Abnormality of the columella |
0.8% |
1/130 |
| Abnormality of the nasal bridge |
0.8% |
1/130 |
| Abnormality of the external nose |
0.8% |
1/130 |
| Hypoplastic nasal septum |
0.8% |
1/130 |
| Narrow nose |
0.8% |
1/130 |
| Nasal obstruction |
0.8% |
1/130 |
| Short nose |
0.8% |
1/130 |
| Abnormality of the mouth |
88.7% |
149/168 |
| Everted lower lip vermilion |
23.8% |
40/168 |
| Drooling |
18.5% |
31/168 |
| High, narrow palate |
12.5% |
21/168 |
| Chewing difficulties |
11.9% |
20/168 |
| Open mouth |
10.7% |
18/168 |
| Long philtrum |
10.1% |
17/168 |
| High palate |
9.5% |
16/168 |
| Broad chin |
7.7% |
13/168 |
| Macroglossia |
7.1% |
12/168 |
| Deep philtrum |
6.5% |
11/168 |
| Protruding tongue |
5.4% |
9/168 |
| Reduced number of teeth |
5.4% |
9/168 |
| Thin upper lip vermilion |
5.4% |
9/168 |
| Widely spaced teeth |
4.8% |
8/168 |
| Microdontia |
4.2% |
7/168 |
| Cleft palate |
3.6% |
6/168 |
| Short philtrum |
3.6% |
6/168 |
| Tented upper lip vermilion |
3.0% |
5/168 |
| Thick lower lip vermilion |
3.0% |
5/168 |
| Wide mouth |
3.0% |
5/168 |
| Thick vermilion border |
2.4% |
4/168 |
| Ankyloglossia |
1.8% |
3/168 |
| Carious teeth |
1.8% |
3/168 |
| Conical tooth |
1.8% |
3/168 |
| Dental malocclusion |
1.8% |
3/168 |
| Mandibular prognathia |
1.8% |
3/168 |
| Oral cleft |
1.8% |
3/168 |
| Smooth philtrum |
1.8% |
3/168 |
| Bilateral cleft lip and palate |
1.2% |
2/168 |
| Broad philtrum |
1.2% |
2/168 |
| Diastema |
1.2% |
2/168 |
| Downturned corners of mouth |
1.2% |
2/168 |
| Gingival overgrowth |
1.2% |
2/168 |
| Hypodontia |
1.2% |
2/168 |
| Hypoplasia of dental enamel |
1.2% |
2/168 |
| Micrognathia |
1.2% |
2/168 |
| Retrognathia |
1.2% |
2/168 |
| Thick upper lip vermilion |
1.2% |
2/168 |
| Unilateral cleft lip |
1.2% |
2/168 |
| Abnormality of the lip |
0.6% |
1/168 |
| Abnormality of oral frenula |
0.6% |
1/168 |
| Abnormality of the tongue |
0.6% |
1/168 |
| Abnormality of the palate |
0.6% |
1/168 |
| Abnormality of the gingiva |
0.6% |
1/168 |
| Abnormal number of incisors |
0.6% |
1/168 |
| Agenesis of permanent teeth |
0.6% |
1/168 |
| Agenesis of premolar |
0.6% |
1/168 |
| Agenesis of lateral incisor |
0.6% |
1/168 |
| Agenesis of maxillary incisor |
0.6% |
1/168 |
| Anterior open-bite malocclusion |
0.6% |
1/168 |
| Bilateral cleft lip |
0.6% |
1/168 |
| Cleft upper lip |
0.6% |
1/168 |
| Conical incisor |
0.6% |
1/168 |
| Conical maxillary incisor |
0.6% |
1/168 |
| Everted upper lip vermilion |
0.6% |
1/168 |
| Exaggerated median tongue furrow |
0.6% |
1/168 |
| Overbite |
0.6% |
1/168 |
| Thin vermilion border |
0.6% |
1/168 |
| Unilateral cleft palate |
0.6% |
1/168 |
| Widely-spaced maxillary central incisors |
0.6% |
1/168 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
20.9% |
27/129 |
| Hearing impairment |
10.1% |
13/129 |
| Conductive hearing impairment |
2.3% |
3/129 |
| Mild hearing impairment |
0.8% |
1/129 |
| Mild conductive hearing impairment |
0.8% |
1/129 |
| Moderate sensorineural hearing impairment |
0.8% |
1/129 |
| Unilateral conductive hearing impairment |
0.8% |
1/129 |
| Abnormal vision |
55.6% |
89/160 |
| Hypermetropia |
19.4% |
31/160 |
| Strabismus |
18.1% |
29/160 |
| Visual impairment |
8.8% |
14/160 |
| Cataract |
2.5% |
4/160 |
| Esotropia |
1.9% |
3/160 |
| Myopia |
1.9% |
3/160 |
| Cortical visual impairment |
1.3% |
2/160 |
| Exotropia |
1.3% |
2/160 |
| Nystagmus |
1.3% |
2/160 |
| Optic disc pallor |
1.3% |
2/160 |
| Abnormal iris pigmentation |
0.6% |
1/160 |
| Abnormal amplitude of dark-adapted bright flash electroretinogram |
0.6% |
1/160 |
| Abnormality of the vasculature of the eye |
0.6% |
1/160 |
| Abnormal amplitude of dark-adapted dim flash electroretinogram |
0.6% |
1/160 |
| Abnormality of macular pigmentation |
0.6% |
1/160 |
| Abnormality of visual evoked potentials |
0.6% |
1/160 |
| Abnormality of the optic disc |
0.6% |
1/160 |
| Alternating esotropia |
0.6% |
1/160 |
| Amblyopia |
0.6% |
1/160 |
| Astigmatism |
0.6% |
1/160 |
| Attenuation of retinal blood vessels |
0.6% |
1/160 |
| Bone spicule pigmentation of the retina |
0.6% |
1/160 |
| Brushfield spots |
0.6% |
1/160 |
| Chorioretinal coloboma |
0.6% |
1/160 |
| Congenital cataract |
0.6% |
1/160 |
| Macular scarring |
0.6% |
1/160 |
| Macular dystrophy |
0.6% |
1/160 |
| Optic atrophy |
0.6% |
1/160 |
| Vitreous floaters |
0.6% |
1/160 |
| Heart |
|
|
| Abnormality of the heart |
37.8% |
56/148 |
| Atria septal defect |
10.8% |
16/148 |
| Ventricular septal defect |
6.8% |
10/148 |
| Abnormality of the atrial septum |
2.7% |
4/148 |
| Bicuspid aortic valve |
2.7% |
4/148 |
| Patent foramen ovale |
2.7% |
4/148 |
| Abnormality of the ventricular septum |
2.0% |
3/148 |
| Aortic dilatation |
2.0% |
3/148 |
| Mitral regurgitation |
2.0% |
3/148 |
| Secundum atrial septal defect |
2.0% |
3/148 |
| Tricuspid regurgitation |
2.0% |
3/148 |
| Abnormality of the cardiovascular system |
1.4% |
2/148 |
| Cardiomyopathy |
1.4% |
2/148 |
| Heart murmur |
1.4% |
2/148 |
| Muscular ventricular septal defect |
1.4% |
2/148 |
| Patent ductus arteriosus |
1.4% |
2/148 |
| Abnormality of the systemic arterial tree |
0.7% |
1/148 |
| Abnormality of the aortic valve |
0.7% |
1/148 |
| Abnormality of the left ventricle |
0.7% |
1/148 |
| Abnormality of the mitral valve |
0.7% |
1/148 |
| Abnormality of the pulmonary veins |
0.7% |
1/148 |
| Aortic valve stenosis |
0.7% |
1/148 |
| Cyanosis |
0.7% |
1/148 |
| Dysplastic pulmonary valve |
0.7% |
1/148 |
| Dysplastic aortic valve |
0.7% |
1/148 |
| Hypertension |
0.7% |
1/148 |
| Mitral valve prolapse |
0.7% |
1/148 |
| Prolonged QT interval |
0.7% |
1/148 |
| Right ventricular dilatation |
0.7% |
1/148 |
| Right atrial enlargement |
0.7% |
1/148 |
| Tachypnea |
0.7% |
1/148 |
| Ventricular aneurysm |
0.7% |
1/148 |
| Pulmonary |
|
|
| Abnormality of the lungs |
30.0% |
3/10 |
| Asthma |
10.0% |
1/10 |
| Pulmonic stenosis |
10.0% |
1/10 |
| Respiratory infections in early life |
10.0% |
1/10 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
68.8% |
95/138 |
| Feeding difficulties |
48.6% |
67/138 |
| Gastroesophageal reflux |
9.4% |
13/138 |
| Tracheomalacia |
7.2% |
10/138 |
| Poor suck |
5.8% |
8/138 |
| Constipation |
3.6% |
5/138 |
| Feeding difficulties in infancy |
3.6% |
5/138 |
| Inguinal hernia |
3.6% |
5/138 |
| Umbilical hernia |
2.2% |
3/138 |
| Chronic constipation |
1.4% |
2/138 |
| Dysphagia |
1.4% |
2/138 |
| Anal fistula |
0.7% |
1/138 |
| Chewing difficulties |
0.7% |
1/138 |
| Drooling |
0.7% |
1/138 |
| Elevated hepatic transaminases |
0.7% |
1/138 |
| Episodic vomiting |
0.7% |
1/138 |
| Intestinal malrotation |
0.7% |
1/138 |
| Laryngomalacia |
0.7% |
1/138 |
| Pyloric stenosis |
0.7% |
1/138 |
| Respiratory infections in early life |
0.7% |
1/138 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
49.7% |
71/143 |
| Cryptorchidism |
12.6% |
18/143 |
| Hydronephrosis |
9.1% |
13/143 |
| Vesicoureteral reflux |
7.0% |
10/143 |
| Bilateral cryptorchidism |
5.6% |
8/143 |
| Fetal pyelectasis |
2.8% |
4/143 |
| Renal duplication |
2.8% |
4/143 |
| Micropenis |
2.1% |
3/143 |
| Dilatation of the renal pelvis |
1.4% |
2/143 |
| Scrotal hypoplasia |
1.4% |
2/143 |
| Ureteropelvic junction obstruction |
1.4% |
2/143 |
| Abnormality of the kidney |
0.7% |
1/143 |
| Abnormality of the bladder |
0.7% |
1/143 |
| Enuresis nocturna |
0.7% |
1/143 |
| Enuresis diurna |
0.7% |
1/143 |
| Hypospadias |
0.7% |
1/143 |
| Macroorchidism |
0.7% |
1/143 |
| Multicystic kidney dysplasia |
0.7% |
1/143 |
| Phimosis |
0.7% |
1/143 |
| Polyuria |
0.7% |
1/143 |
| Pyelonephritis |
0.7% |
1/143 |
| Recurrent urinary tract infections |
0.7% |
1/143 |
| Renal insufficiency |
0.7% |
1/143 |
| Retractile testis |
0.7% |
1/143 |
| Scrotal hypospadias |
0.7% |
1/143 |
| Shawl scrotum |
0.7% |
1/143 |
| Unilateral cryptorchidism |
0.7% |
1/143 |
| Ureterocele |
0.7% |
1/143 |
| Urinary incontinence |
0.7% |
1/143 |
| Skeleton |
|
|
| Skeletal abnormalities |
83.1% |
123/148 |
| Joint laxity |
31.8% |
47/148 |
| Pes planus |
16.2% |
24/148 |
| Arachnodactyly |
14.9% |
22/148 |
| Scoliosis |
11.5% |
17/148 |
| Slender build |
9.5% |
14/148 |
| Abnormality of the curvature of the vertebral column |
7.4% |
11/148 |
| Narrow palm |
7.4% |
11/148 |
| Hip dysplasia |
6.8% |
10/148 |
| Pectus excavatum |
6.8% |
10/148 |
| Joint hypermobility |
6.1% |
9/148 |
| Positional foot deformity |
5.4% |
8/148 |
| Abnormality of the musculature of the hand |
4.7% |
7/148 |
| Hip dislocation |
4.1% |
6/148 |
| Kyphosis |
4.1% |
6/148 |
| Long fingers |
4.1% |
6/148 |
| Abnormality of the hip joint |
3.4% |
5/148 |
| Lower limb asymmetry |
3.4% |
5/148 |
| Pes cavus |
3.4% |
5/148 |
| Shield chest |
3.4% |
5/148 |
| Abnormality of the sternum |
2.7% |
4/148 |
| Broad thumb |
2.7% |
4/148 |
| Hallux valgus |
2.7% |
4/148 |
| Abnormality of the lower limb |
2.0% |
3/148 |
| Clinodactyly of the 5th finger |
2.0% |
3/148 |
| Dolichocephaly |
2.0% |
3/148 |
| Genu valgum |
2.0% |
3/148 |
| Short neck |
2.0% |
3/148 |
| Slender finger |
2.0% |
3/148 |
| Talipes equinovarus |
2.0% |
3/148 |
| Bilateral talipes equinovarus |
1.4% |
2/148 |
| Broad hallux |
1.4% |
2/148 |
| Calcaneovalgus deformity |
1.4% |
2/148 |
| Cervical spinal canal stenosis |
1.4% |
2/148 |
| Clinodactyly |
1.4% |
2/148 |
| Cubitus valgus |
1.4% |
2/148 |
| Deviation of toes |
1.4% |
2/148 |
| Generalized joint laxity |
1.4% |
2/148 |
| Large hands |
1.4% |
2/148 |
| Long foot |
1.4% |
2/148 |
| Long toe |
1.4% |
2/148 |
| Multiple joint dislocation |
1.4% |
2/148 |
| Pectus carinatum |
1.4% |
2/148 |
| Spondylolisthesis |
1.4% |
2/148 |
| Thoracolumbar scoliosis |
1.4% |
2/148 |
| Thoracic scoliosis |
1.4% |
2/148 |
| Valgus foot deformity |
1.4% |
2/148 |
| Abnormality of the thorax |
0.7% |
1/148 |
| Abnormality of the acetabulum |
0.7% |
1/148 |
| Abnormality of toe |
0.7% |
1/148 |
| Abnormal number of vertebrae |
0.7% |
1/148 |
| Ankle contracture |
0.7% |
1/148 |
| Arthropathy |
0.7% |
1/148 |
| Asymmetry of the thorax |
0.7% |
1/148 |
| Bifid distal phalanx of the thumb |
0.7% |
1/148 |
| Bilateral wrist flexion contracture |
0.7% |
1/148 |
| Brachycephaly |
0.7% |
1/148 |
| Broad neck |
0.7% |
1/148 |
| Camptodactyly |
0.7% |
1/148 |
| Clubbing of toes |
0.7% |
1/148 |
| Congenital bilateral hip dislocation |
0.7% |
1/148 |
| Congenital hip dislocation |
0.7% |
1/148 |
| Coxa valga |
0.7% |
1/148 |
| Decreased muscle mass |
0.7% |
1/148 |
| Delayed skeletal maturation |
0.7% |
1/148 |
| Delayed tarsal ossification |
0.7% |
1/148 |
| Digital flexor tenosynovitis |
0.7% |
1/148 |
| Disproportionate tall stature |
0.7% |
1/148 |
| Elbow flexion contracture |
0.7% |
1/148 |
| Finger joint hypermobility |
0.7% |
1/148 |
| Fused lumbar vertebrae |
0.7% |
1/148 |
| Fused thoracic vertebrae |
0.7% |
1/148 |
| Fused cervical vertebrae |
0.7% |
1/148 |
| Hammertoe |
0.7% |
1/148 |
| Hemivertebrae |
0.7% |
1/148 |
| Herniation of intervertebral nuclei |
0.7% |
1/148 |
| Hip Subluxation |
0.7% |
1/148 |
| Hyperextensibility at wrists |
0.7% |
1/148 |
| Hyperlordosis |
0.7% |
1/148 |
| Increased laxity of fingers |
0.7% |
1/148 |
| Joint hyperflexibility |
0.7% |
1/148 |
| Juvenile rheumatoid arthritis |
0.7% |
1/148 |
| Knee flexion contracture |
0.7% |
1/148 |
| Knee dislocation |
0.7% |
1/148 |
| Limb undergrowth |
0.7% |
1/148 |
| Limb joint contracture |
0.7% |
1/148 |
| Long thorax |
0.7% |
1/148 |
| Long palm |
0.7% |
1/148 |
| Lumbar scoliosis |
0.7% |
1/148 |
| Lumbar hyperlordosis |
0.7% |
1/148 |
| Mandibular prognathia |
0.7% |
1/148 |
| Metopic synostosis |
0.7% |
1/148 |
| Narrow foot |
0.7% |
1/148 |
| Narrow chest |
0.7% |
1/148 |
| Overlapping toe |
0.7% |
1/148 |
| Prominent fingertip pads |
0.7% |
1/148 |
| Prominent metopic ridge |
0.7% |
1/148 |
| Proximal placement of hallux |
0.7% |
1/148 |
| Recurrent fractures |
0.7% |
1/148 |
| Sagittal craniosynostosis |
0.7% |
1/148 |
| Sandal gap |
0.7% |
1/148 |
| Scapular winging |
0.7% |
1/148 |
| Short toe |
0.7% |
1/148 |
| Short middle phalanx of finger |
0.7% |
1/148 |
| Short femur |
0.7% |
1/148 |
| Short distal phalanx of finger |
0.7% |
1/148 |
| Shoulder dislocation |
0.7% |
1/148 |
| Talipes valgus |
0.7% |
1/148 |
| Thoracic kyphosis |
0.7% |
1/148 |
| Trigonocephaly |
0.7% |
1/148 |
| Ulnar deviation of the wrist |
0.7% |
1/148 |
| Widened distal phalanges |
0.7% |
1/148 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
79.1% |
121/153 |
| Nevus |
11.1% |
17/153 |
| Wide intermamillary distance |
7.2% |
11/153 |
| Dry skin |
6.5% |
10/153 |
| Fair hair |
6.5% |
10/153 |
| Sacral dimple |
6.5% |
10/153 |
| Dental malocclusion |
5.2% |
8/153 |
| Hypopigmentation of the skin |
5.2% |
8/153 |
| Thick hair |
5.2% |
8/153 |
| Cafe-au-lait spot |
4.6% |
7/153 |
| Fine hair |
4.6% |
7/153 |
| Soft skin |
4.6% |
7/153 |
| Abnormality of hair pigmentation |
3.9% |
6/153 |
| Eczema |
3.9% |
6/153 |
| Hypodontia |
3.9% |
6/153 |
| Sparse hair |
3.3% |
5/153 |
| Abnormality of skin pigmentation |
2.6% |
4/153 |
| Abnormality of the hair |
2.6% |
4/153 |
| Dry hair |
2.6% |
4/153 |
| Hyperextensible skin |
2.6% |
4/153 |
| Single transverse palmar crease |
2.6% |
4/153 |
| Acne |
2.0% |
3/153 |
| Brittle hair |
2.0% |
3/153 |
| Coarse hair |
2.0% |
3/153 |
| Curly hair |
2.0% |
3/153 |
| Vitiligo |
2.0% |
3/153 |
| Abnormality of the nipple |
1.3% |
2/153 |
| Abnormality of hair texture |
1.3% |
2/153 |
| Bilateral single transverse palmar creases |
1.3% |
2/153 |
| Hyperpigmented nevi |
1.3% |
2/153 |
| Hyperkeratosis |
1.3% |
2/153 |
| Hyperpigmentation of the skin |
1.3% |
2/153 |
| Ichthyosis |
1.3% |
2/153 |
| Inverted nipples |
1.3% |
2/153 |
| Low anterior hairline |
1.3% |
2/153 |
| Multiple cafe-au-lait spots |
1.3% |
2/153 |
| Numerous nevi |
1.3% |
2/153 |
| Shoulder dimples |
1.3% |
2/153 |
| Silver-gray hair |
1.3% |
2/153 |
| Abnormality of the nail |
0.7% |
1/153 |
| Abnormality of hair growth |
0.7% |
1/153 |
| Abnormally lax or hyperextensible skin |
0.7% |
1/153 |
| Abnormal elasticity of skin |
0.7% |
1/153 |
| Alopecia |
0.7% |
1/153 |
| Aplasia cutis congenita over the scalp vertex |
0.7% |
1/153 |
| Aplasia cutis congenita of scalp |
0.7% |
1/153 |
| Atrophic, patchy alopecia |
0.7% |
1/153 |
| Atrophic scars |
0.7% |
1/153 |
| Bifid nail |
0.7% |
1/153 |
| Bruising susceptibility |
0.7% |
1/153 |
| Cutis laxa |
0.7% |
1/153 |
| Cyanosis |
0.7% |
1/153 |
| Deep palmar crease |
0.7% |
1/153 |
| Fragile nails |
0.7% |
1/153 |
| Hyperkeratosis pilaris |
0.7% |
1/153 |
| Hypohidrosis |
0.7% |
1/153 |
| Hypopigmented skin patches |
0.7% |
1/153 |
| Localized hirsutism |
0.7% |
1/153 |
| Melanocytic nevus |
0.7% |
1/153 |
| Milia |
0.7% |
1/153 |
| Multiple palmar creases |
0.7% |
1/153 |
| Nail dystrophy |
0.7% |
1/153 |
| Skin dimples |
0.7% |
1/153 |
| Soft, doughy skin |
0.7% |
1/153 |
| Sparse anterior scalp hair |
0.7% |
1/153 |
| Uncombable hair |
0.7% |
1/153 |
| Webbed neck |
0.7% |
1/153 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
8.8% |
10/113 |
| Growth hormone deficiency |
3.5% |
4/113 |
| Gonadotropin deficiency |
0.9% |
1/113 |
| Hyperthyroidism |
0.9% |
1/113 |
| Hypothyroidism |
0.9% |
1/113 |
| Precocious puberty |
0.9% |
1/113 |
| Primary adrenal insufficiency |
0.9% |
1/113 |
| Abnormality of the metabolic system |
7.2% |
8/111 |
| Neonatal hypoglycemia |
1.8% |
2/111 |
| Neonatal hyperbilirubinemia |
1.8% |
2/111 |
| Abnormality of circulating enzyme level |
0.9% |
1/111 |
| Anemia |
0.9% |
1/111 |
| Decreased activity of mitochondrial complex I |
0.9% |
1/111 |
| Hypoglycemia |
0.9% |
1/111 |
| Abnormality of the immune system |
39.5% |
47/119 |
| Recurrent otitis media |
5.9% |
7/119 |
| Recurrent urinary tract infections |
4.2% |
5/119 |
| Recurrent respiratory infections |
4.2% |
5/119 |
| Asthma |
3.4% |
4/119 |
| Recurrent upper respiratory tract infections |
3.4% |
4/119 |
| Recurrent infections |
3.4% |
4/119 |
| Neutropenia |
2.5% |
3/119 |
| Recurrent pneumonia |
2.5% |
3/119 |
| Recurrent infections of the middle ear |
2.5% |
3/119 |
| Chronic otitis media |
1.7% |
2/119 |
| Recurrent bronchitis |
1.7% |
2/119 |
| Aspiration pneumonia |
0.8% |
1/119 |
| Bronchitis |
0.8% |
1/119 |
| Bruising susceptibility |
0.8% |
1/119 |
| Celiac disease |
0.8% |
1/119 |
| Easy fatigability |
0.8% |
1/119 |
| Recurrent cystitis |
0.8% |
1/119 |
| Sepsis |
0.8% |
1/119 |
| Neoplasia |
|
|
| Neoplasia |
8.9% |
10/112 |
| Hemangioma |
2.7% |
3/112 |
| Gait disturbance |
0.9% |
1/112 |
| Gait ataxia |
0.9% |
1/112 |
| Medulloblastoma |
0.9% |
1/112 |
| Melanoma |
0.9% |
1/112 |
| Testicular neoplasm |
0.9% |
1/112 |
| Verrucae |
0.9% |
1/112 |